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bcbio/bcbio-nextgen
bcbio/install.py
get_genome_dir
def get_genome_dir(gid, galaxy_dir, data): """Return standard location of genome directories. """ if galaxy_dir: refs = genome.get_refs(gid, None, galaxy_dir, data) seq_file = tz.get_in(["fasta", "base"], refs) if seq_file and os.path.exists(seq_file): return os.path.dirname(os.path.dirname(seq_file)) else: gdirs = glob.glob(os.path.join(_get_data_dir(), "genomes", "*", gid)) if len(gdirs) == 1 and os.path.exists(gdirs[0]): return gdirs[0]
python
def get_genome_dir(gid, galaxy_dir, data): if galaxy_dir: refs = genome.get_refs(gid, None, galaxy_dir, data) seq_file = tz.get_in(["fasta", "base"], refs) if seq_file and os.path.exists(seq_file): return os.path.dirname(os.path.dirname(seq_file)) else: gdirs = glob.glob(os.path.join(_get_data_dir(), "genomes", "*", gid)) if len(gdirs) == 1 and os.path.exists(gdirs[0]): return gdirs[0]
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Return standard location of genome directories.
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6a9348c0054ccd5baffd22f1bb7d0422f6978b20
https://github.com/bcbio/bcbio-nextgen/blob/6a9348c0054ccd5baffd22f1bb7d0422f6978b20/bcbio/install.py#L300-L311
237,201
bcbio/bcbio-nextgen
bcbio/install.py
_prepare_cwl_tarballs
def _prepare_cwl_tarballs(data_dir): """Create CWL ready tarballs for complex directories. Avoids need for CWL runners to pass and serialize complex directories of files, which is inconsistent between runners. """ for dbref_dir in filter(os.path.isdir, glob.glob(os.path.join(data_dir, "genomes", "*", "*"))): base_dir, dbref = os.path.split(dbref_dir) for indexdir in TARBALL_DIRECTORIES: cur_target = os.path.join(dbref_dir, indexdir) if os.path.isdir(cur_target): # Some indices, like rtg, have a single nested directory subdirs = [x for x in os.listdir(cur_target) if os.path.isdir(os.path.join(cur_target, x))] if len(subdirs) == 1: cur_target = os.path.join(cur_target, subdirs[0]) create.directory_tarball(cur_target)
python
def _prepare_cwl_tarballs(data_dir): for dbref_dir in filter(os.path.isdir, glob.glob(os.path.join(data_dir, "genomes", "*", "*"))): base_dir, dbref = os.path.split(dbref_dir) for indexdir in TARBALL_DIRECTORIES: cur_target = os.path.join(dbref_dir, indexdir) if os.path.isdir(cur_target): # Some indices, like rtg, have a single nested directory subdirs = [x for x in os.listdir(cur_target) if os.path.isdir(os.path.join(cur_target, x))] if len(subdirs) == 1: cur_target = os.path.join(cur_target, subdirs[0]) create.directory_tarball(cur_target)
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Create CWL ready tarballs for complex directories. Avoids need for CWL runners to pass and serialize complex directories of files, which is inconsistent between runners.
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6a9348c0054ccd5baffd22f1bb7d0422f6978b20
https://github.com/bcbio/bcbio-nextgen/blob/6a9348c0054ccd5baffd22f1bb7d0422f6978b20/bcbio/install.py#L358-L373
237,202
bcbio/bcbio-nextgen
bcbio/install.py
_upgrade_genome_resources
def _upgrade_genome_resources(galaxy_dir, base_url): """Retrieve latest version of genome resource YAML configuration files. """ import requests for dbkey, ref_file in genome.get_builds(galaxy_dir): # Check for a remote genome resources file remote_url = base_url % dbkey requests.packages.urllib3.disable_warnings() r = requests.get(remote_url, verify=False) if r.status_code == requests.codes.ok: local_file = os.path.join(os.path.dirname(ref_file), os.path.basename(remote_url)) if os.path.exists(local_file): with open(local_file) as in_handle: local_config = yaml.safe_load(in_handle) remote_config = yaml.safe_load(r.text) needs_update = remote_config["version"] > local_config.get("version", 0) if needs_update: shutil.move(local_file, local_file + ".old%s" % local_config.get("version", 0)) else: needs_update = True if needs_update: print("Updating %s genome resources configuration" % dbkey) with open(local_file, "w") as out_handle: out_handle.write(r.text)
python
def _upgrade_genome_resources(galaxy_dir, base_url): import requests for dbkey, ref_file in genome.get_builds(galaxy_dir): # Check for a remote genome resources file remote_url = base_url % dbkey requests.packages.urllib3.disable_warnings() r = requests.get(remote_url, verify=False) if r.status_code == requests.codes.ok: local_file = os.path.join(os.path.dirname(ref_file), os.path.basename(remote_url)) if os.path.exists(local_file): with open(local_file) as in_handle: local_config = yaml.safe_load(in_handle) remote_config = yaml.safe_load(r.text) needs_update = remote_config["version"] > local_config.get("version", 0) if needs_update: shutil.move(local_file, local_file + ".old%s" % local_config.get("version", 0)) else: needs_update = True if needs_update: print("Updating %s genome resources configuration" % dbkey) with open(local_file, "w") as out_handle: out_handle.write(r.text)
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Retrieve latest version of genome resource YAML configuration files.
[ "Retrieve", "latest", "version", "of", "genome", "resource", "YAML", "configuration", "files", "." ]
6a9348c0054ccd5baffd22f1bb7d0422f6978b20
https://github.com/bcbio/bcbio-nextgen/blob/6a9348c0054ccd5baffd22f1bb7d0422f6978b20/bcbio/install.py#L375-L398
237,203
bcbio/bcbio-nextgen
bcbio/install.py
_upgrade_snpeff_data
def _upgrade_snpeff_data(galaxy_dir, args, remotes): """Install or upgrade snpEff databases, localized to reference directory. """ snpeff_version = effects.snpeff_version(args) if not snpeff_version: return for dbkey, ref_file in genome.get_builds(galaxy_dir): resource_file = os.path.join(os.path.dirname(ref_file), "%s-resources.yaml" % dbkey) if os.path.exists(resource_file): with open(resource_file) as in_handle: resources = yaml.safe_load(in_handle) snpeff_db, snpeff_base_dir = effects.get_db({"genome_resources": resources, "reference": {"fasta": {"base": ref_file}}}) if snpeff_db: snpeff_db_dir = os.path.join(snpeff_base_dir, snpeff_db) if os.path.exists(snpeff_db_dir) and _is_old_database(snpeff_db_dir, args): shutil.rmtree(snpeff_db_dir) if not os.path.exists(snpeff_db_dir): print("Installing snpEff database %s in %s" % (snpeff_db, snpeff_base_dir)) dl_url = remotes["snpeff_dl_url"].format( snpeff_ver=snpeff_version.replace(".", "_"), genome=snpeff_db) dl_file = os.path.basename(dl_url) with utils.chdir(snpeff_base_dir): subprocess.check_call(["wget", "--no-check-certificate", "-c", "-O", dl_file, dl_url]) subprocess.check_call(["unzip", dl_file]) os.remove(dl_file) dl_dir = os.path.join(snpeff_base_dir, "data", snpeff_db) shutil.move(dl_dir, snpeff_db_dir) os.rmdir(os.path.join(snpeff_base_dir, "data")) if args.cwl: create.directory_tarball(snpeff_db_dir)
python
def _upgrade_snpeff_data(galaxy_dir, args, remotes): snpeff_version = effects.snpeff_version(args) if not snpeff_version: return for dbkey, ref_file in genome.get_builds(galaxy_dir): resource_file = os.path.join(os.path.dirname(ref_file), "%s-resources.yaml" % dbkey) if os.path.exists(resource_file): with open(resource_file) as in_handle: resources = yaml.safe_load(in_handle) snpeff_db, snpeff_base_dir = effects.get_db({"genome_resources": resources, "reference": {"fasta": {"base": ref_file}}}) if snpeff_db: snpeff_db_dir = os.path.join(snpeff_base_dir, snpeff_db) if os.path.exists(snpeff_db_dir) and _is_old_database(snpeff_db_dir, args): shutil.rmtree(snpeff_db_dir) if not os.path.exists(snpeff_db_dir): print("Installing snpEff database %s in %s" % (snpeff_db, snpeff_base_dir)) dl_url = remotes["snpeff_dl_url"].format( snpeff_ver=snpeff_version.replace(".", "_"), genome=snpeff_db) dl_file = os.path.basename(dl_url) with utils.chdir(snpeff_base_dir): subprocess.check_call(["wget", "--no-check-certificate", "-c", "-O", dl_file, dl_url]) subprocess.check_call(["unzip", dl_file]) os.remove(dl_file) dl_dir = os.path.join(snpeff_base_dir, "data", snpeff_db) shutil.move(dl_dir, snpeff_db_dir) os.rmdir(os.path.join(snpeff_base_dir, "data")) if args.cwl: create.directory_tarball(snpeff_db_dir)
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Install or upgrade snpEff databases, localized to reference directory.
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6a9348c0054ccd5baffd22f1bb7d0422f6978b20
https://github.com/bcbio/bcbio-nextgen/blob/6a9348c0054ccd5baffd22f1bb7d0422f6978b20/bcbio/install.py#L404-L435
237,204
bcbio/bcbio-nextgen
bcbio/install.py
_is_old_database
def _is_old_database(db_dir, args): """Check for old database versions, supported in snpEff 4.1. """ snpeff_version = effects.snpeff_version(args) if LooseVersion(snpeff_version) >= LooseVersion("4.1"): pred_file = os.path.join(db_dir, "snpEffectPredictor.bin") if not utils.file_exists(pred_file): return True with utils.open_gzipsafe(pred_file, is_gz=True) as in_handle: version_info = in_handle.readline().strip().split("\t") program, version = version_info[:2] if not program.lower() == "snpeff" or LooseVersion(snpeff_version) > LooseVersion(version): return True return False
python
def _is_old_database(db_dir, args): snpeff_version = effects.snpeff_version(args) if LooseVersion(snpeff_version) >= LooseVersion("4.1"): pred_file = os.path.join(db_dir, "snpEffectPredictor.bin") if not utils.file_exists(pred_file): return True with utils.open_gzipsafe(pred_file, is_gz=True) as in_handle: version_info = in_handle.readline().strip().split("\t") program, version = version_info[:2] if not program.lower() == "snpeff" or LooseVersion(snpeff_version) > LooseVersion(version): return True return False
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Check for old database versions, supported in snpEff 4.1.
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6a9348c0054ccd5baffd22f1bb7d0422f6978b20
https://github.com/bcbio/bcbio-nextgen/blob/6a9348c0054ccd5baffd22f1bb7d0422f6978b20/bcbio/install.py#L437-L450
237,205
bcbio/bcbio-nextgen
bcbio/install.py
_get_biodata
def _get_biodata(base_file, args): """Retrieve biodata genome targets customized by install parameters. """ with open(base_file) as in_handle: config = yaml.safe_load(in_handle) config["install_liftover"] = False config["genome_indexes"] = args.aligners ann_groups = config.pop("annotation_groups", {}) config["genomes"] = [_setup_genome_annotations(g, args, ann_groups) for g in config["genomes"] if g["dbkey"] in args.genomes] return config
python
def _get_biodata(base_file, args): with open(base_file) as in_handle: config = yaml.safe_load(in_handle) config["install_liftover"] = False config["genome_indexes"] = args.aligners ann_groups = config.pop("annotation_groups", {}) config["genomes"] = [_setup_genome_annotations(g, args, ann_groups) for g in config["genomes"] if g["dbkey"] in args.genomes] return config
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Retrieve biodata genome targets customized by install parameters.
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6a9348c0054ccd5baffd22f1bb7d0422f6978b20
https://github.com/bcbio/bcbio-nextgen/blob/6a9348c0054ccd5baffd22f1bb7d0422f6978b20/bcbio/install.py#L452-L462
237,206
bcbio/bcbio-nextgen
bcbio/install.py
_setup_genome_annotations
def _setup_genome_annotations(g, args, ann_groups): """Configure genome annotations to install based on datatarget. """ available_anns = g.get("annotations", []) + g.pop("annotations_available", []) anns = [] for orig_target in args.datatarget: if orig_target in ann_groups: targets = ann_groups[orig_target] else: targets = [orig_target] for target in targets: if target in available_anns: anns.append(target) g["annotations"] = anns if "variation" not in args.datatarget and "validation" in g: del g["validation"] return g
python
def _setup_genome_annotations(g, args, ann_groups): available_anns = g.get("annotations", []) + g.pop("annotations_available", []) anns = [] for orig_target in args.datatarget: if orig_target in ann_groups: targets = ann_groups[orig_target] else: targets = [orig_target] for target in targets: if target in available_anns: anns.append(target) g["annotations"] = anns if "variation" not in args.datatarget and "validation" in g: del g["validation"] return g
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Configure genome annotations to install based on datatarget.
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6a9348c0054ccd5baffd22f1bb7d0422f6978b20
https://github.com/bcbio/bcbio-nextgen/blob/6a9348c0054ccd5baffd22f1bb7d0422f6978b20/bcbio/install.py#L464-L480
237,207
bcbio/bcbio-nextgen
bcbio/install.py
upgrade_thirdparty_tools
def upgrade_thirdparty_tools(args, remotes): """Install and update third party tools used in the pipeline. Creates a manifest directory with installed programs on the system. """ cbl = get_cloudbiolinux(remotes) if args.toolconf and os.path.exists(args.toolconf): package_yaml = args.toolconf else: package_yaml = os.path.join(cbl["dir"], "contrib", "flavor", "ngs_pipeline_minimal", "packages-conda.yaml") sys.path.insert(0, cbl["dir"]) cbl_conda = __import__("cloudbio.package.conda", fromlist=["conda"]) cbl_conda.install_in(_get_conda_bin(), args.tooldir, package_yaml) manifest_dir = os.path.join(_get_data_dir(), "manifest") print("Creating manifest of installed packages in %s" % manifest_dir) cbl_manifest = __import__("cloudbio.manifest", fromlist=["manifest"]) if os.path.exists(manifest_dir): for fname in os.listdir(manifest_dir): if not fname.startswith("toolplus"): os.remove(os.path.join(manifest_dir, fname)) cbl_manifest.create(manifest_dir, args.tooldir)
python
def upgrade_thirdparty_tools(args, remotes): cbl = get_cloudbiolinux(remotes) if args.toolconf and os.path.exists(args.toolconf): package_yaml = args.toolconf else: package_yaml = os.path.join(cbl["dir"], "contrib", "flavor", "ngs_pipeline_minimal", "packages-conda.yaml") sys.path.insert(0, cbl["dir"]) cbl_conda = __import__("cloudbio.package.conda", fromlist=["conda"]) cbl_conda.install_in(_get_conda_bin(), args.tooldir, package_yaml) manifest_dir = os.path.join(_get_data_dir(), "manifest") print("Creating manifest of installed packages in %s" % manifest_dir) cbl_manifest = __import__("cloudbio.manifest", fromlist=["manifest"]) if os.path.exists(manifest_dir): for fname in os.listdir(manifest_dir): if not fname.startswith("toolplus"): os.remove(os.path.join(manifest_dir, fname)) cbl_manifest.create(manifest_dir, args.tooldir)
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Install and update third party tools used in the pipeline. Creates a manifest directory with installed programs on the system.
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6a9348c0054ccd5baffd22f1bb7d0422f6978b20
https://github.com/bcbio/bcbio-nextgen/blob/6a9348c0054ccd5baffd22f1bb7d0422f6978b20/bcbio/install.py#L482-L503
237,208
bcbio/bcbio-nextgen
bcbio/install.py
_install_toolplus
def _install_toolplus(args): """Install additional tools we cannot distribute, updating local manifest. """ manifest_dir = os.path.join(_get_data_dir(), "manifest") toolplus_manifest = os.path.join(manifest_dir, "toolplus-packages.yaml") system_config = os.path.join(_get_data_dir(), "galaxy", "bcbio_system.yaml") # Handle toolplus installs inside Docker container if not os.path.exists(system_config): docker_system_config = os.path.join(_get_data_dir(), "config", "bcbio_system.yaml") if os.path.exists(docker_system_config): system_config = docker_system_config toolplus_dir = os.path.join(_get_data_dir(), "toolplus") for tool in args.toolplus: if tool.name in set(["gatk", "mutect"]): print("Installing %s" % tool.name) _install_gatk_jar(tool.name, tool.fname, toolplus_manifest, system_config, toolplus_dir) else: raise ValueError("Unexpected toolplus argument: %s %s" % (tool.name, tool.fname))
python
def _install_toolplus(args): manifest_dir = os.path.join(_get_data_dir(), "manifest") toolplus_manifest = os.path.join(manifest_dir, "toolplus-packages.yaml") system_config = os.path.join(_get_data_dir(), "galaxy", "bcbio_system.yaml") # Handle toolplus installs inside Docker container if not os.path.exists(system_config): docker_system_config = os.path.join(_get_data_dir(), "config", "bcbio_system.yaml") if os.path.exists(docker_system_config): system_config = docker_system_config toolplus_dir = os.path.join(_get_data_dir(), "toolplus") for tool in args.toolplus: if tool.name in set(["gatk", "mutect"]): print("Installing %s" % tool.name) _install_gatk_jar(tool.name, tool.fname, toolplus_manifest, system_config, toolplus_dir) else: raise ValueError("Unexpected toolplus argument: %s %s" % (tool.name, tool.fname))
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Install additional tools we cannot distribute, updating local manifest.
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6a9348c0054ccd5baffd22f1bb7d0422f6978b20
https://github.com/bcbio/bcbio-nextgen/blob/6a9348c0054ccd5baffd22f1bb7d0422f6978b20/bcbio/install.py#L505-L522
237,209
bcbio/bcbio-nextgen
bcbio/install.py
_install_gatk_jar
def _install_gatk_jar(name, fname, manifest, system_config, toolplus_dir): """Install a jar for GATK or associated tools like MuTect. """ if not fname.endswith(".jar"): raise ValueError("--toolplus argument for %s expects a jar file: %s" % (name, fname)) version = get_gatk_jar_version(name, fname) store_dir = utils.safe_makedir(os.path.join(toolplus_dir, name, version)) shutil.copyfile(fname, os.path.join(store_dir, os.path.basename(fname))) _update_system_file(system_config, name, {"dir": store_dir}) _update_manifest(manifest, name, version)
python
def _install_gatk_jar(name, fname, manifest, system_config, toolplus_dir): if not fname.endswith(".jar"): raise ValueError("--toolplus argument for %s expects a jar file: %s" % (name, fname)) version = get_gatk_jar_version(name, fname) store_dir = utils.safe_makedir(os.path.join(toolplus_dir, name, version)) shutil.copyfile(fname, os.path.join(store_dir, os.path.basename(fname))) _update_system_file(system_config, name, {"dir": store_dir}) _update_manifest(manifest, name, version)
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Install a jar for GATK or associated tools like MuTect.
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6a9348c0054ccd5baffd22f1bb7d0422f6978b20
https://github.com/bcbio/bcbio-nextgen/blob/6a9348c0054ccd5baffd22f1bb7d0422f6978b20/bcbio/install.py#L532-L541
237,210
bcbio/bcbio-nextgen
bcbio/install.py
_update_manifest
def _update_manifest(manifest_file, name, version): """Update the toolplus manifest file with updated name and version """ if os.path.exists(manifest_file): with open(manifest_file) as in_handle: manifest = yaml.safe_load(in_handle) else: manifest = {} manifest[name] = {"name": name, "version": version} with open(manifest_file, "w") as out_handle: yaml.safe_dump(manifest, out_handle, default_flow_style=False, allow_unicode=False)
python
def _update_manifest(manifest_file, name, version): if os.path.exists(manifest_file): with open(manifest_file) as in_handle: manifest = yaml.safe_load(in_handle) else: manifest = {} manifest[name] = {"name": name, "version": version} with open(manifest_file, "w") as out_handle: yaml.safe_dump(manifest, out_handle, default_flow_style=False, allow_unicode=False)
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Update the toolplus manifest file with updated name and version
[ "Update", "the", "toolplus", "manifest", "file", "with", "updated", "name", "and", "version" ]
6a9348c0054ccd5baffd22f1bb7d0422f6978b20
https://github.com/bcbio/bcbio-nextgen/blob/6a9348c0054ccd5baffd22f1bb7d0422f6978b20/bcbio/install.py#L543-L553
237,211
bcbio/bcbio-nextgen
bcbio/install.py
_update_system_file
def _update_system_file(system_file, name, new_kvs): """Update the bcbio_system.yaml file with new resource information. """ if os.path.exists(system_file): bak_file = system_file + ".bak%s" % datetime.datetime.now().strftime("%Y-%m-%d-%H-%M-%S") shutil.copyfile(system_file, bak_file) with open(system_file) as in_handle: config = yaml.safe_load(in_handle) else: utils.safe_makedir(os.path.dirname(system_file)) config = {} new_rs = {} added = False for rname, r_kvs in config.get("resources", {}).items(): if rname == name: for k, v in new_kvs.items(): r_kvs[k] = v added = True new_rs[rname] = r_kvs if not added: new_rs[name] = new_kvs config["resources"] = new_rs with open(system_file, "w") as out_handle: yaml.safe_dump(config, out_handle, default_flow_style=False, allow_unicode=False)
python
def _update_system_file(system_file, name, new_kvs): if os.path.exists(system_file): bak_file = system_file + ".bak%s" % datetime.datetime.now().strftime("%Y-%m-%d-%H-%M-%S") shutil.copyfile(system_file, bak_file) with open(system_file) as in_handle: config = yaml.safe_load(in_handle) else: utils.safe_makedir(os.path.dirname(system_file)) config = {} new_rs = {} added = False for rname, r_kvs in config.get("resources", {}).items(): if rname == name: for k, v in new_kvs.items(): r_kvs[k] = v added = True new_rs[rname] = r_kvs if not added: new_rs[name] = new_kvs config["resources"] = new_rs with open(system_file, "w") as out_handle: yaml.safe_dump(config, out_handle, default_flow_style=False, allow_unicode=False)
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Update the bcbio_system.yaml file with new resource information.
[ "Update", "the", "bcbio_system", ".", "yaml", "file", "with", "new", "resource", "information", "." ]
6a9348c0054ccd5baffd22f1bb7d0422f6978b20
https://github.com/bcbio/bcbio-nextgen/blob/6a9348c0054ccd5baffd22f1bb7d0422f6978b20/bcbio/install.py#L555-L578
237,212
bcbio/bcbio-nextgen
bcbio/install.py
_install_kraken_db
def _install_kraken_db(datadir, args): """Install kraken minimal DB in genome folder. """ import requests kraken = os.path.join(datadir, "genomes/kraken") url = "https://ccb.jhu.edu/software/kraken/dl/minikraken.tgz" compress = os.path.join(kraken, os.path.basename(url)) base, ext = utils.splitext_plus(os.path.basename(url)) db = os.path.join(kraken, base) tooldir = args.tooldir or get_defaults()["tooldir"] requests.packages.urllib3.disable_warnings() last_mod = urllib.request.urlopen(url).info().get('Last-Modified') last_mod = dateutil.parser.parse(last_mod).astimezone(dateutil.tz.tzutc()) if os.path.exists(os.path.join(tooldir, "bin", "kraken")): if not os.path.exists(db): is_new_version = True else: cur_file = glob.glob(os.path.join(kraken, "minikraken_*"))[0] cur_version = datetime.datetime.utcfromtimestamp(os.path.getmtime(cur_file)) is_new_version = last_mod.date() > cur_version.date() if is_new_version: shutil.move(cur_file, cur_file.replace('minikraken', 'old')) if not os.path.exists(kraken): utils.safe_makedir(kraken) if is_new_version: if not os.path.exists(compress): subprocess.check_call(["wget", "-O", compress, url, "--no-check-certificate"]) cmd = ["tar", "-xzvf", compress, "-C", kraken] subprocess.check_call(cmd) last_version = glob.glob(os.path.join(kraken, "minikraken_*")) utils.symlink_plus(os.path.join(kraken, last_version[0]), os.path.join(kraken, "minikraken")) utils.remove_safe(compress) else: print("You have the latest version %s." % last_mod) else: raise argparse.ArgumentTypeError("kraken not installed in tooldir %s." % os.path.join(tooldir, "bin", "kraken"))
python
def _install_kraken_db(datadir, args): import requests kraken = os.path.join(datadir, "genomes/kraken") url = "https://ccb.jhu.edu/software/kraken/dl/minikraken.tgz" compress = os.path.join(kraken, os.path.basename(url)) base, ext = utils.splitext_plus(os.path.basename(url)) db = os.path.join(kraken, base) tooldir = args.tooldir or get_defaults()["tooldir"] requests.packages.urllib3.disable_warnings() last_mod = urllib.request.urlopen(url).info().get('Last-Modified') last_mod = dateutil.parser.parse(last_mod).astimezone(dateutil.tz.tzutc()) if os.path.exists(os.path.join(tooldir, "bin", "kraken")): if not os.path.exists(db): is_new_version = True else: cur_file = glob.glob(os.path.join(kraken, "minikraken_*"))[0] cur_version = datetime.datetime.utcfromtimestamp(os.path.getmtime(cur_file)) is_new_version = last_mod.date() > cur_version.date() if is_new_version: shutil.move(cur_file, cur_file.replace('minikraken', 'old')) if not os.path.exists(kraken): utils.safe_makedir(kraken) if is_new_version: if not os.path.exists(compress): subprocess.check_call(["wget", "-O", compress, url, "--no-check-certificate"]) cmd = ["tar", "-xzvf", compress, "-C", kraken] subprocess.check_call(cmd) last_version = glob.glob(os.path.join(kraken, "minikraken_*")) utils.symlink_plus(os.path.join(kraken, last_version[0]), os.path.join(kraken, "minikraken")) utils.remove_safe(compress) else: print("You have the latest version %s." % last_mod) else: raise argparse.ArgumentTypeError("kraken not installed in tooldir %s." % os.path.join(tooldir, "bin", "kraken"))
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Install kraken minimal DB in genome folder.
[ "Install", "kraken", "minimal", "DB", "in", "genome", "folder", "." ]
6a9348c0054ccd5baffd22f1bb7d0422f6978b20
https://github.com/bcbio/bcbio-nextgen/blob/6a9348c0054ccd5baffd22f1bb7d0422f6978b20/bcbio/install.py#L580-L616
237,213
bcbio/bcbio-nextgen
bcbio/install.py
_get_install_config
def _get_install_config(): """Return the YAML configuration file used to store upgrade information. """ try: data_dir = _get_data_dir() except ValueError: return None config_dir = utils.safe_makedir(os.path.join(data_dir, "config")) return os.path.join(config_dir, "install-params.yaml")
python
def _get_install_config(): try: data_dir = _get_data_dir() except ValueError: return None config_dir = utils.safe_makedir(os.path.join(data_dir, "config")) return os.path.join(config_dir, "install-params.yaml")
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Return the YAML configuration file used to store upgrade information.
[ "Return", "the", "YAML", "configuration", "file", "used", "to", "store", "upgrade", "information", "." ]
6a9348c0054ccd5baffd22f1bb7d0422f6978b20
https://github.com/bcbio/bcbio-nextgen/blob/6a9348c0054ccd5baffd22f1bb7d0422f6978b20/bcbio/install.py#L620-L628
237,214
bcbio/bcbio-nextgen
bcbio/install.py
save_install_defaults
def save_install_defaults(args): """Save installation information to make future upgrades easier. """ install_config = _get_install_config() if install_config is None: return if utils.file_exists(install_config): with open(install_config) as in_handle: cur_config = yaml.safe_load(in_handle) else: cur_config = {} if args.tooldir: cur_config["tooldir"] = args.tooldir cur_config["isolate"] = args.isolate for attr in ["genomes", "aligners", "datatarget"]: if not cur_config.get(attr): cur_config[attr] = [] for x in getattr(args, attr): if x not in cur_config[attr]: cur_config[attr].append(x) # toolplus -- save non-filename inputs attr = "toolplus" if not cur_config.get(attr): cur_config[attr] = [] for x in getattr(args, attr): if not x.fname: if x.name not in cur_config[attr]: cur_config[attr].append(x.name) with open(install_config, "w") as out_handle: yaml.safe_dump(cur_config, out_handle, default_flow_style=False, allow_unicode=False)
python
def save_install_defaults(args): install_config = _get_install_config() if install_config is None: return if utils.file_exists(install_config): with open(install_config) as in_handle: cur_config = yaml.safe_load(in_handle) else: cur_config = {} if args.tooldir: cur_config["tooldir"] = args.tooldir cur_config["isolate"] = args.isolate for attr in ["genomes", "aligners", "datatarget"]: if not cur_config.get(attr): cur_config[attr] = [] for x in getattr(args, attr): if x not in cur_config[attr]: cur_config[attr].append(x) # toolplus -- save non-filename inputs attr = "toolplus" if not cur_config.get(attr): cur_config[attr] = [] for x in getattr(args, attr): if not x.fname: if x.name not in cur_config[attr]: cur_config[attr].append(x.name) with open(install_config, "w") as out_handle: yaml.safe_dump(cur_config, out_handle, default_flow_style=False, allow_unicode=False)
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Save installation information to make future upgrades easier.
[ "Save", "installation", "information", "to", "make", "future", "upgrades", "easier", "." ]
6a9348c0054ccd5baffd22f1bb7d0422f6978b20
https://github.com/bcbio/bcbio-nextgen/blob/6a9348c0054ccd5baffd22f1bb7d0422f6978b20/bcbio/install.py#L630-L659
237,215
bcbio/bcbio-nextgen
bcbio/install.py
add_install_defaults
def add_install_defaults(args): """Add any saved installation defaults to the upgrade. """ # Ensure we install data if we've specified any secondary installation targets if len(args.genomes) > 0 or len(args.aligners) > 0 or len(args.datatarget) > 0: args.install_data = True install_config = _get_install_config() if install_config is None or not utils.file_exists(install_config): default_args = {} else: with open(install_config) as in_handle: default_args = yaml.safe_load(in_handle) # if we are upgrading to development, also upgrade the tools if args.upgrade in ["development"] and (args.tooldir or "tooldir" in default_args): args.tools = True if args.tools and args.tooldir is None: if "tooldir" in default_args: args.tooldir = str(default_args["tooldir"]) else: raise ValueError("Default tool directory not yet saved in config defaults. " "Specify the '--tooldir=/path/to/tools' to upgrade tools. " "After a successful upgrade, the '--tools' parameter will " "work for future upgrades.") for attr in ["genomes", "aligners"]: # don't upgrade default genomes if a genome was specified if attr == "genomes" and len(args.genomes) > 0: continue for x in default_args.get(attr, []): x = str(x) new_val = getattr(args, attr) if x not in getattr(args, attr): new_val.append(x) setattr(args, attr, new_val) args = _datatarget_defaults(args, default_args) if "isolate" in default_args and args.isolate is not True: args.isolate = default_args["isolate"] return args
python
def add_install_defaults(args): # Ensure we install data if we've specified any secondary installation targets if len(args.genomes) > 0 or len(args.aligners) > 0 or len(args.datatarget) > 0: args.install_data = True install_config = _get_install_config() if install_config is None or not utils.file_exists(install_config): default_args = {} else: with open(install_config) as in_handle: default_args = yaml.safe_load(in_handle) # if we are upgrading to development, also upgrade the tools if args.upgrade in ["development"] and (args.tooldir or "tooldir" in default_args): args.tools = True if args.tools and args.tooldir is None: if "tooldir" in default_args: args.tooldir = str(default_args["tooldir"]) else: raise ValueError("Default tool directory not yet saved in config defaults. " "Specify the '--tooldir=/path/to/tools' to upgrade tools. " "After a successful upgrade, the '--tools' parameter will " "work for future upgrades.") for attr in ["genomes", "aligners"]: # don't upgrade default genomes if a genome was specified if attr == "genomes" and len(args.genomes) > 0: continue for x in default_args.get(attr, []): x = str(x) new_val = getattr(args, attr) if x not in getattr(args, attr): new_val.append(x) setattr(args, attr, new_val) args = _datatarget_defaults(args, default_args) if "isolate" in default_args and args.isolate is not True: args.isolate = default_args["isolate"] return args
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Add any saved installation defaults to the upgrade.
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6a9348c0054ccd5baffd22f1bb7d0422f6978b20
https://github.com/bcbio/bcbio-nextgen/blob/6a9348c0054ccd5baffd22f1bb7d0422f6978b20/bcbio/install.py#L661-L697
237,216
bcbio/bcbio-nextgen
bcbio/install.py
_datatarget_defaults
def _datatarget_defaults(args, default_args): """Set data installation targets, handling defaults. Sets variation, rnaseq, smallrna as default targets if we're not isolated to a single method. Provides back compatibility for toolplus specifications. """ default_data = default_args.get("datatarget", []) # back-compatible toolplus specifications for x in default_args.get("toolplus", []): val = None if x == "data": val = "gemini" elif x in ["cadd", "dbnsfp", "dbscsnv", "kraken", "gnomad"]: val = x if val and val not in default_data: default_data.append(val) new_val = getattr(args, "datatarget") for x in default_data: if x not in new_val: new_val.append(x) has_std_target = False std_targets = ["variation", "rnaseq", "smallrna"] for target in std_targets: if target in new_val: has_std_target = True break if not has_std_target: new_val = new_val + std_targets setattr(args, "datatarget", new_val) return args
python
def _datatarget_defaults(args, default_args): default_data = default_args.get("datatarget", []) # back-compatible toolplus specifications for x in default_args.get("toolplus", []): val = None if x == "data": val = "gemini" elif x in ["cadd", "dbnsfp", "dbscsnv", "kraken", "gnomad"]: val = x if val and val not in default_data: default_data.append(val) new_val = getattr(args, "datatarget") for x in default_data: if x not in new_val: new_val.append(x) has_std_target = False std_targets = ["variation", "rnaseq", "smallrna"] for target in std_targets: if target in new_val: has_std_target = True break if not has_std_target: new_val = new_val + std_targets setattr(args, "datatarget", new_val) return args
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Set data installation targets, handling defaults. Sets variation, rnaseq, smallrna as default targets if we're not isolated to a single method. Provides back compatibility for toolplus specifications.
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6a9348c0054ccd5baffd22f1bb7d0422f6978b20
https://github.com/bcbio/bcbio-nextgen/blob/6a9348c0054ccd5baffd22f1bb7d0422f6978b20/bcbio/install.py#L699-L730
237,217
bcbio/bcbio-nextgen
bcbio/cwl/workflow.py
_merge_wf_inputs
def _merge_wf_inputs(new, out, wf_outputs, to_ignore, parallel, nested_inputs): """Merge inputs for a sub-workflow, adding any not present inputs in out. Skips inputs that are internally generated or generated and ignored, keeping only as inputs those that we do not generate internally. """ internal_generated_ids = [] for vignore in to_ignore: vignore_id = _get_string_vid(vignore) # ignore anything we generate internally, but not those we need to pull in # from the external process if vignore_id not in [v["id"] for v in wf_outputs]: internal_generated_ids.append(vignore_id) ignore_ids = set(internal_generated_ids + [v["id"] for v in wf_outputs]) cur_ids = set([v["id"] for v in out]) remapped_new = [] for v in new: remapped_v = copy.deepcopy(v) outv = copy.deepcopy(v) outv["id"] = get_base_id(v["id"]) outv["source"] = v["id"] if outv["id"] not in cur_ids and outv["id"] not in ignore_ids: if nested_inputs and v["id"] in nested_inputs: outv = _flatten_nested_input(outv) out.append(outv) if remapped_v["id"] in set([v["source"] for v in out]): remapped_v["source"] = get_base_id(remapped_v["id"]) remapped_new.append(remapped_v) return out, remapped_new
python
def _merge_wf_inputs(new, out, wf_outputs, to_ignore, parallel, nested_inputs): internal_generated_ids = [] for vignore in to_ignore: vignore_id = _get_string_vid(vignore) # ignore anything we generate internally, but not those we need to pull in # from the external process if vignore_id not in [v["id"] for v in wf_outputs]: internal_generated_ids.append(vignore_id) ignore_ids = set(internal_generated_ids + [v["id"] for v in wf_outputs]) cur_ids = set([v["id"] for v in out]) remapped_new = [] for v in new: remapped_v = copy.deepcopy(v) outv = copy.deepcopy(v) outv["id"] = get_base_id(v["id"]) outv["source"] = v["id"] if outv["id"] not in cur_ids and outv["id"] not in ignore_ids: if nested_inputs and v["id"] in nested_inputs: outv = _flatten_nested_input(outv) out.append(outv) if remapped_v["id"] in set([v["source"] for v in out]): remapped_v["source"] = get_base_id(remapped_v["id"]) remapped_new.append(remapped_v) return out, remapped_new
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Merge inputs for a sub-workflow, adding any not present inputs in out. Skips inputs that are internally generated or generated and ignored, keeping only as inputs those that we do not generate internally.
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6a9348c0054ccd5baffd22f1bb7d0422f6978b20
https://github.com/bcbio/bcbio-nextgen/blob/6a9348c0054ccd5baffd22f1bb7d0422f6978b20/bcbio/cwl/workflow.py#L72-L100
237,218
bcbio/bcbio-nextgen
bcbio/cwl/workflow.py
_merge_wf_outputs
def _merge_wf_outputs(new, cur, parallel): """Merge outputs for a sub-workflow, replacing variables changed in later steps. ignore_ids are those used internally in a sub-workflow but not exposed to subsequent steps """ new_ids = set([]) out = [] for v in new: outv = {} outv["source"] = v["id"] outv["id"] = "%s" % get_base_id(v["id"]) outv["type"] = v["type"] if "secondaryFiles" in v: outv["secondaryFiles"] = v["secondaryFiles"] if tz.get_in(["outputBinding", "secondaryFiles"], v): outv["secondaryFiles"] = tz.get_in(["outputBinding", "secondaryFiles"], v) new_ids.add(outv["id"]) out.append(outv) for outv in cur: if outv["id"] not in new_ids: out.append(outv) return out
python
def _merge_wf_outputs(new, cur, parallel): new_ids = set([]) out = [] for v in new: outv = {} outv["source"] = v["id"] outv["id"] = "%s" % get_base_id(v["id"]) outv["type"] = v["type"] if "secondaryFiles" in v: outv["secondaryFiles"] = v["secondaryFiles"] if tz.get_in(["outputBinding", "secondaryFiles"], v): outv["secondaryFiles"] = tz.get_in(["outputBinding", "secondaryFiles"], v) new_ids.add(outv["id"]) out.append(outv) for outv in cur: if outv["id"] not in new_ids: out.append(outv) return out
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Merge outputs for a sub-workflow, replacing variables changed in later steps. ignore_ids are those used internally in a sub-workflow but not exposed to subsequent steps
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6a9348c0054ccd5baffd22f1bb7d0422f6978b20
https://github.com/bcbio/bcbio-nextgen/blob/6a9348c0054ccd5baffd22f1bb7d0422f6978b20/bcbio/cwl/workflow.py#L102-L123
237,219
bcbio/bcbio-nextgen
bcbio/cwl/workflow.py
_extract_from_subworkflow
def _extract_from_subworkflow(vs, step): """Remove internal variable names when moving from sub-workflow to main. """ substep_ids = set([x.name for x in step.workflow]) out = [] for var in vs: internal = False parts = var["id"].split("/") if len(parts) > 1: if parts[0] in substep_ids: internal = True if not internal: var.pop("source", None) out.append(var) return out
python
def _extract_from_subworkflow(vs, step): substep_ids = set([x.name for x in step.workflow]) out = [] for var in vs: internal = False parts = var["id"].split("/") if len(parts) > 1: if parts[0] in substep_ids: internal = True if not internal: var.pop("source", None) out.append(var) return out
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Remove internal variable names when moving from sub-workflow to main.
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6a9348c0054ccd5baffd22f1bb7d0422f6978b20
https://github.com/bcbio/bcbio-nextgen/blob/6a9348c0054ccd5baffd22f1bb7d0422f6978b20/bcbio/cwl/workflow.py#L125-L139
237,220
bcbio/bcbio-nextgen
bcbio/cwl/workflow.py
is_cwl_record
def is_cwl_record(d): """Check if an input is a CWL record, from any level of nesting. """ if isinstance(d, dict): if d.get("type") == "record": return d else: recs = list(filter(lambda x: x is not None, [is_cwl_record(v) for v in d.values()])) return recs[0] if recs else None else: return None
python
def is_cwl_record(d): if isinstance(d, dict): if d.get("type") == "record": return d else: recs = list(filter(lambda x: x is not None, [is_cwl_record(v) for v in d.values()])) return recs[0] if recs else None else: return None
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Check if an input is a CWL record, from any level of nesting.
[ "Check", "if", "an", "input", "is", "a", "CWL", "record", "from", "any", "level", "of", "nesting", "." ]
6a9348c0054ccd5baffd22f1bb7d0422f6978b20
https://github.com/bcbio/bcbio-nextgen/blob/6a9348c0054ccd5baffd22f1bb7d0422f6978b20/bcbio/cwl/workflow.py#L150-L160
237,221
bcbio/bcbio-nextgen
bcbio/cwl/workflow.py
_get_step_inputs
def _get_step_inputs(step, file_vs, std_vs, parallel_ids, wf=None): """Retrieve inputs for a step from existing variables. Potentially nests inputs to deal with merging split variables. If we split previously and are merging now, then we only nest those coming from the split process. """ inputs = [] skip_inputs = set([]) for orig_input in [_get_variable(x, file_vs) for x in _handle_special_inputs(step.inputs, file_vs)]: inputs.append(orig_input) # Only add description and other information for non-record inputs, otherwise batched with records if not any(is_cwl_record(x) for x in inputs): inputs += [v for v in std_vs if get_base_id(v["id"]) not in skip_inputs] nested_inputs = [] if step.parallel in ["single-merge", "batch-merge"]: if parallel_ids: inputs = [_nest_variable(x) if x["id"] in parallel_ids else x for x in inputs] nested_inputs = parallel_ids[:] parallel_ids = [] elif step.parallel in ["multi-combined"]: assert len(parallel_ids) == 0 nested_inputs = [x["id"] for x in inputs] inputs = [_nest_variable(x) for x in inputs] elif step.parallel in ["multi-batch"]: assert len(parallel_ids) == 0 nested_inputs = [x["id"] for x in inputs] # If we're batching,with mixed records/inputs avoid double nesting records inputs = [_nest_variable(x, check_records=(len(inputs) > 1)) for x in inputs] # avoid inputs/outputs with the same name outputs = [_get_string_vid(x["id"]) for x in step.outputs] final_inputs = [] for input in inputs: input["wf_duplicate"] = get_base_id(input["id"]) in outputs final_inputs.append(input) return inputs, parallel_ids, nested_inputs
python
def _get_step_inputs(step, file_vs, std_vs, parallel_ids, wf=None): inputs = [] skip_inputs = set([]) for orig_input in [_get_variable(x, file_vs) for x in _handle_special_inputs(step.inputs, file_vs)]: inputs.append(orig_input) # Only add description and other information for non-record inputs, otherwise batched with records if not any(is_cwl_record(x) for x in inputs): inputs += [v for v in std_vs if get_base_id(v["id"]) not in skip_inputs] nested_inputs = [] if step.parallel in ["single-merge", "batch-merge"]: if parallel_ids: inputs = [_nest_variable(x) if x["id"] in parallel_ids else x for x in inputs] nested_inputs = parallel_ids[:] parallel_ids = [] elif step.parallel in ["multi-combined"]: assert len(parallel_ids) == 0 nested_inputs = [x["id"] for x in inputs] inputs = [_nest_variable(x) for x in inputs] elif step.parallel in ["multi-batch"]: assert len(parallel_ids) == 0 nested_inputs = [x["id"] for x in inputs] # If we're batching,with mixed records/inputs avoid double nesting records inputs = [_nest_variable(x, check_records=(len(inputs) > 1)) for x in inputs] # avoid inputs/outputs with the same name outputs = [_get_string_vid(x["id"]) for x in step.outputs] final_inputs = [] for input in inputs: input["wf_duplicate"] = get_base_id(input["id"]) in outputs final_inputs.append(input) return inputs, parallel_ids, nested_inputs
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Retrieve inputs for a step from existing variables. Potentially nests inputs to deal with merging split variables. If we split previously and are merging now, then we only nest those coming from the split process.
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6a9348c0054ccd5baffd22f1bb7d0422f6978b20
https://github.com/bcbio/bcbio-nextgen/blob/6a9348c0054ccd5baffd22f1bb7d0422f6978b20/bcbio/cwl/workflow.py#L162-L197
237,222
bcbio/bcbio-nextgen
bcbio/cwl/workflow.py
_nest_variable
def _nest_variable(v, check_records=False): """Nest a variable when moving from scattered back to consolidated. check_records -- avoid re-nesting a record input if it comes from a previous step and is already nested, don't need to re-array. """ if (check_records and is_cwl_record(v) and len(v["id"].split("/")) > 1 and v.get("type", {}).get("type") == "array"): return v else: v = copy.deepcopy(v) v["type"] = {"type": "array", "items": v["type"]} return v
python
def _nest_variable(v, check_records=False): if (check_records and is_cwl_record(v) and len(v["id"].split("/")) > 1 and v.get("type", {}).get("type") == "array"): return v else: v = copy.deepcopy(v) v["type"] = {"type": "array", "items": v["type"]} return v
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Nest a variable when moving from scattered back to consolidated. check_records -- avoid re-nesting a record input if it comes from a previous step and is already nested, don't need to re-array.
[ "Nest", "a", "variable", "when", "moving", "from", "scattered", "back", "to", "consolidated", "." ]
6a9348c0054ccd5baffd22f1bb7d0422f6978b20
https://github.com/bcbio/bcbio-nextgen/blob/6a9348c0054ccd5baffd22f1bb7d0422f6978b20/bcbio/cwl/workflow.py#L251-L263
237,223
bcbio/bcbio-nextgen
bcbio/cwl/workflow.py
_clean_output
def _clean_output(v): """Remove output specific variables to allow variables to be inputs to next steps. """ out = copy.deepcopy(v) outb = out.pop("outputBinding", {}) if "secondaryFiles" in outb: out["secondaryFiles"] = outb["secondaryFiles"] return out
python
def _clean_output(v): out = copy.deepcopy(v) outb = out.pop("outputBinding", {}) if "secondaryFiles" in outb: out["secondaryFiles"] = outb["secondaryFiles"] return out
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Remove output specific variables to allow variables to be inputs to next steps.
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6a9348c0054ccd5baffd22f1bb7d0422f6978b20
https://github.com/bcbio/bcbio-nextgen/blob/6a9348c0054ccd5baffd22f1bb7d0422f6978b20/bcbio/cwl/workflow.py#L265-L272
237,224
bcbio/bcbio-nextgen
bcbio/cwl/workflow.py
_get_variable
def _get_variable(vid, variables): """Retrieve an input variable from our existing pool of options. """ if isinstance(vid, six.string_types): vid = get_base_id(vid) else: vid = _get_string_vid(vid) for v in variables: if vid == get_base_id(v["id"]): return copy.deepcopy(v) raise ValueError("Did not find variable %s in \n%s" % (vid, pprint.pformat(variables)))
python
def _get_variable(vid, variables): if isinstance(vid, six.string_types): vid = get_base_id(vid) else: vid = _get_string_vid(vid) for v in variables: if vid == get_base_id(v["id"]): return copy.deepcopy(v) raise ValueError("Did not find variable %s in \n%s" % (vid, pprint.pformat(variables)))
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Retrieve an input variable from our existing pool of options.
[ "Retrieve", "an", "input", "variable", "from", "our", "existing", "pool", "of", "options", "." ]
6a9348c0054ccd5baffd22f1bb7d0422f6978b20
https://github.com/bcbio/bcbio-nextgen/blob/6a9348c0054ccd5baffd22f1bb7d0422f6978b20/bcbio/cwl/workflow.py#L280-L290
237,225
bcbio/bcbio-nextgen
bcbio/cwl/workflow.py
_handle_special_inputs
def _handle_special_inputs(inputs, variables): """Adjust input variables based on special cases. This case handles inputs where we are optional or can have flexible choices. XXX Need to better expose this at a top level definition. """ from bcbio import structural optional = [["config", "algorithm", "coverage"], ["config", "algorithm", "variant_regions"], ["config", "algorithm", "sv_regions"], ["config", "algorithm", "validate"], ["config", "algorithm", "validate_regions"]] all_vs = set([get_base_id(v["id"]) for v in variables]) out = [] for input in inputs: if input == ["reference", "aligner", "indexes"]: for v in variables: vid = get_base_id(v["id"]).split("__") if vid[0] == "reference" and vid[1] in alignment.TOOLS: out.append(vid) elif input == ["reference", "snpeff", "genome_build"]: found_indexes = False for v in variables: vid = get_base_id(v["id"]).split("__") if vid[0] == "reference" and vid[1] == "snpeff": out.append(vid) found_indexes = True assert found_indexes, "Found no snpEff indexes in %s" % [v["id"] for v in variables] elif input == ["config", "algorithm", "background", "cnv_reference"]: for v in variables: vid = get_base_id(v["id"]).split("__") if (vid[:4] == ["config", "algorithm", "background", "cnv_reference"] and structural.supports_cnv_reference(vid[4])): out.append(vid) elif input in optional: if _get_string_vid(input) in all_vs: out.append(input) else: out.append(input) return out
python
def _handle_special_inputs(inputs, variables): from bcbio import structural optional = [["config", "algorithm", "coverage"], ["config", "algorithm", "variant_regions"], ["config", "algorithm", "sv_regions"], ["config", "algorithm", "validate"], ["config", "algorithm", "validate_regions"]] all_vs = set([get_base_id(v["id"]) for v in variables]) out = [] for input in inputs: if input == ["reference", "aligner", "indexes"]: for v in variables: vid = get_base_id(v["id"]).split("__") if vid[0] == "reference" and vid[1] in alignment.TOOLS: out.append(vid) elif input == ["reference", "snpeff", "genome_build"]: found_indexes = False for v in variables: vid = get_base_id(v["id"]).split("__") if vid[0] == "reference" and vid[1] == "snpeff": out.append(vid) found_indexes = True assert found_indexes, "Found no snpEff indexes in %s" % [v["id"] for v in variables] elif input == ["config", "algorithm", "background", "cnv_reference"]: for v in variables: vid = get_base_id(v["id"]).split("__") if (vid[:4] == ["config", "algorithm", "background", "cnv_reference"] and structural.supports_cnv_reference(vid[4])): out.append(vid) elif input in optional: if _get_string_vid(input) in all_vs: out.append(input) else: out.append(input) return out
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Adjust input variables based on special cases. This case handles inputs where we are optional or can have flexible choices. XXX Need to better expose this at a top level definition.
[ "Adjust", "input", "variables", "based", "on", "special", "cases", "." ]
6a9348c0054ccd5baffd22f1bb7d0422f6978b20
https://github.com/bcbio/bcbio-nextgen/blob/6a9348c0054ccd5baffd22f1bb7d0422f6978b20/bcbio/cwl/workflow.py#L292-L332
237,226
bcbio/bcbio-nextgen
bcbio/cwl/workflow.py
_create_record
def _create_record(name, field_defs, step_name, inputs, unlist, file_vs, std_vs, parallel): """Create an output record by rearranging inputs. Batching processes create records that reformat the inputs for parallelization. """ if field_defs: fields = [] inherit = [] inherit_all = False inherit_exclude = [] for fdef in field_defs: if not fdef.get("type"): if fdef["id"] == "inherit": inherit_all = True inherit_exclude = fdef.get("exclude", []) else: inherit.append(fdef["id"]) else: cur = {"name": _get_string_vid(fdef["id"]), "type": fdef["type"]} fields.append(_add_secondary_to_rec_field(fdef, cur)) if inherit_all: fields.extend(_infer_record_outputs(inputs, unlist, file_vs, std_vs, parallel, exclude=inherit_exclude)) elif inherit: fields.extend(_infer_record_outputs(inputs, unlist, file_vs, std_vs, parallel, inherit)) else: fields = _infer_record_outputs(inputs, unlist, file_vs, std_vs, parallel) out = {"id": "%s/%s" % (step_name, name), "type": {"name": name, "type": "record", "fields": fields}} if parallel in ["batch-single", "multi-batch"]: out = _nest_variable(out) return out
python
def _create_record(name, field_defs, step_name, inputs, unlist, file_vs, std_vs, parallel): if field_defs: fields = [] inherit = [] inherit_all = False inherit_exclude = [] for fdef in field_defs: if not fdef.get("type"): if fdef["id"] == "inherit": inherit_all = True inherit_exclude = fdef.get("exclude", []) else: inherit.append(fdef["id"]) else: cur = {"name": _get_string_vid(fdef["id"]), "type": fdef["type"]} fields.append(_add_secondary_to_rec_field(fdef, cur)) if inherit_all: fields.extend(_infer_record_outputs(inputs, unlist, file_vs, std_vs, parallel, exclude=inherit_exclude)) elif inherit: fields.extend(_infer_record_outputs(inputs, unlist, file_vs, std_vs, parallel, inherit)) else: fields = _infer_record_outputs(inputs, unlist, file_vs, std_vs, parallel) out = {"id": "%s/%s" % (step_name, name), "type": {"name": name, "type": "record", "fields": fields}} if parallel in ["batch-single", "multi-batch"]: out = _nest_variable(out) return out
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Create an output record by rearranging inputs. Batching processes create records that reformat the inputs for parallelization.
[ "Create", "an", "output", "record", "by", "rearranging", "inputs", "." ]
6a9348c0054ccd5baffd22f1bb7d0422f6978b20
https://github.com/bcbio/bcbio-nextgen/blob/6a9348c0054ccd5baffd22f1bb7d0422f6978b20/bcbio/cwl/workflow.py#L348-L382
237,227
bcbio/bcbio-nextgen
bcbio/cwl/workflow.py
_infer_record_outputs
def _infer_record_outputs(inputs, unlist, file_vs, std_vs, parallel, to_include=None, exclude=None): """Infer the outputs of a record from the original inputs """ fields = [] unlist = set([_get_string_vid(x) for x in unlist]) input_vids = set([_get_string_vid(v) for v in _handle_special_inputs(inputs, file_vs)]) to_include = set([_get_string_vid(x) for x in to_include]) if to_include else None to_exclude = tuple(set([_get_string_vid(x) for x in exclude])) if exclude else None added = set([]) for raw_v in std_vs + [v for v in file_vs if get_base_id(v["id"]) in input_vids]: # unpack record inside this record and un-nested inputs to avoid double nested cur_record = is_cwl_record(raw_v) if cur_record: # unlist = unlist | set([field["name"] for field in cur_record["fields"]]) nested_vs = [{"id": field["name"], "type": field["type"]} for field in cur_record["fields"]] else: nested_vs = [raw_v] for orig_v in nested_vs: if (get_base_id(orig_v["id"]) not in added and (not to_include or get_base_id(orig_v["id"]) in to_include)): if to_exclude is None or not get_base_id(orig_v["id"]).startswith(to_exclude): cur_v = {} cur_v["name"] = get_base_id(orig_v["id"]) cur_v["type"] = orig_v["type"] if cur_v["name"] in unlist: cur_v = _flatten_nested_input(cur_v) fields.append(_add_secondary_to_rec_field(orig_v, cur_v)) added.add(get_base_id(orig_v["id"])) return fields
python
def _infer_record_outputs(inputs, unlist, file_vs, std_vs, parallel, to_include=None, exclude=None): fields = [] unlist = set([_get_string_vid(x) for x in unlist]) input_vids = set([_get_string_vid(v) for v in _handle_special_inputs(inputs, file_vs)]) to_include = set([_get_string_vid(x) for x in to_include]) if to_include else None to_exclude = tuple(set([_get_string_vid(x) for x in exclude])) if exclude else None added = set([]) for raw_v in std_vs + [v for v in file_vs if get_base_id(v["id"]) in input_vids]: # unpack record inside this record and un-nested inputs to avoid double nested cur_record = is_cwl_record(raw_v) if cur_record: # unlist = unlist | set([field["name"] for field in cur_record["fields"]]) nested_vs = [{"id": field["name"], "type": field["type"]} for field in cur_record["fields"]] else: nested_vs = [raw_v] for orig_v in nested_vs: if (get_base_id(orig_v["id"]) not in added and (not to_include or get_base_id(orig_v["id"]) in to_include)): if to_exclude is None or not get_base_id(orig_v["id"]).startswith(to_exclude): cur_v = {} cur_v["name"] = get_base_id(orig_v["id"]) cur_v["type"] = orig_v["type"] if cur_v["name"] in unlist: cur_v = _flatten_nested_input(cur_v) fields.append(_add_secondary_to_rec_field(orig_v, cur_v)) added.add(get_base_id(orig_v["id"])) return fields
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Infer the outputs of a record from the original inputs
[ "Infer", "the", "outputs", "of", "a", "record", "from", "the", "original", "inputs" ]
6a9348c0054ccd5baffd22f1bb7d0422f6978b20
https://github.com/bcbio/bcbio-nextgen/blob/6a9348c0054ccd5baffd22f1bb7d0422f6978b20/bcbio/cwl/workflow.py#L390-L419
237,228
bcbio/bcbio-nextgen
bcbio/cwl/workflow.py
_create_variable
def _create_variable(orig_v, step, variables): """Create a new output variable, potentially over-writing existing or creating new. """ # get current variable, and convert to be the output of our process step try: v = _get_variable(orig_v["id"], variables) except ValueError: v = copy.deepcopy(orig_v) if not isinstance(v["id"], six.string_types): v["id"] = _get_string_vid(v["id"]) for key, val in orig_v.items(): if key not in ["id", "type"]: v[key] = val if orig_v.get("type") != "null": v["type"] = orig_v["type"] v["id"] = "%s/%s" % (step.name, get_base_id(v["id"])) return v
python
def _create_variable(orig_v, step, variables): # get current variable, and convert to be the output of our process step try: v = _get_variable(orig_v["id"], variables) except ValueError: v = copy.deepcopy(orig_v) if not isinstance(v["id"], six.string_types): v["id"] = _get_string_vid(v["id"]) for key, val in orig_v.items(): if key not in ["id", "type"]: v[key] = val if orig_v.get("type") != "null": v["type"] = orig_v["type"] v["id"] = "%s/%s" % (step.name, get_base_id(v["id"])) return v
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Create a new output variable, potentially over-writing existing or creating new.
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6a9348c0054ccd5baffd22f1bb7d0422f6978b20
https://github.com/bcbio/bcbio-nextgen/blob/6a9348c0054ccd5baffd22f1bb7d0422f6978b20/bcbio/cwl/workflow.py#L421-L437
237,229
bcbio/bcbio-nextgen
bcbio/cwl/workflow.py
_merge_variables
def _merge_variables(new, cur): """Add any new variables to the world representation in cur. Replaces any variables adjusted by previous steps. """ new_added = set([]) out = [] for cur_var in cur: updated = False for new_var in new: if get_base_id(new_var["id"]) == get_base_id(cur_var["id"]): out.append(new_var) new_added.add(new_var["id"]) updated = True break if not updated: out.append(cur_var) for new_var in new: if new_var["id"] not in new_added: out.append(new_var) return out
python
def _merge_variables(new, cur): new_added = set([]) out = [] for cur_var in cur: updated = False for new_var in new: if get_base_id(new_var["id"]) == get_base_id(cur_var["id"]): out.append(new_var) new_added.add(new_var["id"]) updated = True break if not updated: out.append(cur_var) for new_var in new: if new_var["id"] not in new_added: out.append(new_var) return out
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Add any new variables to the world representation in cur. Replaces any variables adjusted by previous steps.
[ "Add", "any", "new", "variables", "to", "the", "world", "representation", "in", "cur", "." ]
6a9348c0054ccd5baffd22f1bb7d0422f6978b20
https://github.com/bcbio/bcbio-nextgen/blob/6a9348c0054ccd5baffd22f1bb7d0422f6978b20/bcbio/cwl/workflow.py#L439-L459
237,230
bcbio/bcbio-nextgen
bcbio/pipeline/disambiguate/__init__.py
split
def split(*items): """Split samples into all possible genomes for alignment. """ out = [] for data in [x[0] for x in items]: dis_orgs = data["config"]["algorithm"].get("disambiguate") if dis_orgs: if not data.get("disambiguate", None): data["disambiguate"] = {"genome_build": data["genome_build"], "base": True} out.append([data]) # handle the instance where a single organism is disambiguated if isinstance(dis_orgs, six.string_types): dis_orgs = [dis_orgs] for dis_org in dis_orgs: dis_data = copy.deepcopy(data) dis_data["disambiguate"] = {"genome_build": dis_org} dis_data["genome_build"] = dis_org dis_data["config"]["algorithm"]["effects"] = False dis_data = run_info.add_reference_resources(dis_data) out.append([dis_data]) else: out.append([data]) return out
python
def split(*items): out = [] for data in [x[0] for x in items]: dis_orgs = data["config"]["algorithm"].get("disambiguate") if dis_orgs: if not data.get("disambiguate", None): data["disambiguate"] = {"genome_build": data["genome_build"], "base": True} out.append([data]) # handle the instance where a single organism is disambiguated if isinstance(dis_orgs, six.string_types): dis_orgs = [dis_orgs] for dis_org in dis_orgs: dis_data = copy.deepcopy(data) dis_data["disambiguate"] = {"genome_build": dis_org} dis_data["genome_build"] = dis_org dis_data["config"]["algorithm"]["effects"] = False dis_data = run_info.add_reference_resources(dis_data) out.append([dis_data]) else: out.append([data]) return out
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Split samples into all possible genomes for alignment.
[ "Split", "samples", "into", "all", "possible", "genomes", "for", "alignment", "." ]
6a9348c0054ccd5baffd22f1bb7d0422f6978b20
https://github.com/bcbio/bcbio-nextgen/blob/6a9348c0054ccd5baffd22f1bb7d0422f6978b20/bcbio/pipeline/disambiguate/__init__.py#L28-L51
237,231
bcbio/bcbio-nextgen
bcbio/pipeline/disambiguate/__init__.py
resolve
def resolve(items, run_parallel): """Combine aligned and split samples into final set of disambiguated reads. """ out = [] to_process = collections.defaultdict(list) for data in [x[0] for x in items]: if "disambiguate" in data: split_part = tuple([int(x) for x in data["align_split"].split("-")]) if data.get("combine") else None to_process[(dd.get_sample_name(data), split_part)].append(data) else: out.append([data]) if len(to_process) > 0: dis1 = run_parallel("run_disambiguate", [(xs, xs[0]["config"]) for xs in to_process.values()]) disambigs_by_name = collections.defaultdict(list) print(len(dis1)) for xs in dis1: assert len(xs) == 1 data = xs[0] disambigs_by_name[dd.get_sample_name(data)].append(data) dis2 = run_parallel("disambiguate_merge_extras", [(xs, xs[0]["config"]) for xs in disambigs_by_name.values()]) else: dis2 = [] return out + dis2
python
def resolve(items, run_parallel): out = [] to_process = collections.defaultdict(list) for data in [x[0] for x in items]: if "disambiguate" in data: split_part = tuple([int(x) for x in data["align_split"].split("-")]) if data.get("combine") else None to_process[(dd.get_sample_name(data), split_part)].append(data) else: out.append([data]) if len(to_process) > 0: dis1 = run_parallel("run_disambiguate", [(xs, xs[0]["config"]) for xs in to_process.values()]) disambigs_by_name = collections.defaultdict(list) print(len(dis1)) for xs in dis1: assert len(xs) == 1 data = xs[0] disambigs_by_name[dd.get_sample_name(data)].append(data) dis2 = run_parallel("disambiguate_merge_extras", [(xs, xs[0]["config"]) for xs in disambigs_by_name.values()]) else: dis2 = [] return out + dis2
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Combine aligned and split samples into final set of disambiguated reads.
[ "Combine", "aligned", "and", "split", "samples", "into", "final", "set", "of", "disambiguated", "reads", "." ]
6a9348c0054ccd5baffd22f1bb7d0422f6978b20
https://github.com/bcbio/bcbio-nextgen/blob/6a9348c0054ccd5baffd22f1bb7d0422f6978b20/bcbio/pipeline/disambiguate/__init__.py#L53-L77
237,232
bcbio/bcbio-nextgen
bcbio/pipeline/disambiguate/__init__.py
merge_extras
def merge_extras(items, config): """Merge extra disambiguated reads into a final BAM file. """ final = {} for extra_name in items[0]["disambiguate"].keys(): in_files = [] for data in items: in_files.append(data["disambiguate"][extra_name]) out_file = "%s-allmerged%s" % os.path.splitext(in_files[0]) if in_files[0].endswith(".bam"): merged_file = merge.merge_bam_files(in_files, os.path.dirname(out_file), items[0], out_file=out_file) else: assert extra_name == "summary", extra_name merged_file = _merge_summary(in_files, out_file, items[0]) final[extra_name] = merged_file out = [] for data in items: data["disambiguate"] = final out.append([data]) return out
python
def merge_extras(items, config): final = {} for extra_name in items[0]["disambiguate"].keys(): in_files = [] for data in items: in_files.append(data["disambiguate"][extra_name]) out_file = "%s-allmerged%s" % os.path.splitext(in_files[0]) if in_files[0].endswith(".bam"): merged_file = merge.merge_bam_files(in_files, os.path.dirname(out_file), items[0], out_file=out_file) else: assert extra_name == "summary", extra_name merged_file = _merge_summary(in_files, out_file, items[0]) final[extra_name] = merged_file out = [] for data in items: data["disambiguate"] = final out.append([data]) return out
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Merge extra disambiguated reads into a final BAM file.
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6a9348c0054ccd5baffd22f1bb7d0422f6978b20
https://github.com/bcbio/bcbio-nextgen/blob/6a9348c0054ccd5baffd22f1bb7d0422f6978b20/bcbio/pipeline/disambiguate/__init__.py#L79-L99
237,233
bcbio/bcbio-nextgen
bcbio/pipeline/disambiguate/__init__.py
_merge_summary
def _merge_summary(in_files, out_file, data): """Create one big summary file for disambiguation from multiple splits. """ if not utils.file_exists(out_file): with file_transaction(data, out_file) as tx_out_file: with open(tx_out_file, "w") as out_handle: for i, in_file in enumerate(in_files): with open(in_file) as in_handle: for j, line in enumerate(in_handle): if j == 0: if i == 0: out_handle.write(line) else: out_handle.write(line) return out_file
python
def _merge_summary(in_files, out_file, data): if not utils.file_exists(out_file): with file_transaction(data, out_file) as tx_out_file: with open(tx_out_file, "w") as out_handle: for i, in_file in enumerate(in_files): with open(in_file) as in_handle: for j, line in enumerate(in_handle): if j == 0: if i == 0: out_handle.write(line) else: out_handle.write(line) return out_file
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Create one big summary file for disambiguation from multiple splits.
[ "Create", "one", "big", "summary", "file", "for", "disambiguation", "from", "multiple", "splits", "." ]
6a9348c0054ccd5baffd22f1bb7d0422f6978b20
https://github.com/bcbio/bcbio-nextgen/blob/6a9348c0054ccd5baffd22f1bb7d0422f6978b20/bcbio/pipeline/disambiguate/__init__.py#L101-L115
237,234
bcbio/bcbio-nextgen
bcbio/pipeline/disambiguate/__init__.py
_run_python
def _run_python(work_bam_a, work_bam_b, out_dir, aligner, prefix, items): """Run python version of disambiguation """ Args = collections.namedtuple("Args", "A B output_dir intermediate_dir " "no_sort prefix aligner") args = Args(work_bam_a, work_bam_b, out_dir, out_dir, True, "", aligner) disambiguate_main(args)
python
def _run_python(work_bam_a, work_bam_b, out_dir, aligner, prefix, items): Args = collections.namedtuple("Args", "A B output_dir intermediate_dir " "no_sort prefix aligner") args = Args(work_bam_a, work_bam_b, out_dir, out_dir, True, "", aligner) disambiguate_main(args)
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Run python version of disambiguation
[ "Run", "python", "version", "of", "disambiguation" ]
6a9348c0054ccd5baffd22f1bb7d0422f6978b20
https://github.com/bcbio/bcbio-nextgen/blob/6a9348c0054ccd5baffd22f1bb7d0422f6978b20/bcbio/pipeline/disambiguate/__init__.py#L153-L159
237,235
bcbio/bcbio-nextgen
bcbio/cwl/main.py
run
def run(args): """Run a CWL preparation pipeline. """ dirs, config, run_info_yaml = run_info.prep_system(args.sample_config, args.systemconfig) integrations = args.integrations if hasattr(args, "integrations") else {} world = run_info.organize(dirs, config, run_info_yaml, is_cwl=True, integrations=integrations) create.from_world(world, run_info_yaml, integrations=integrations, add_container_tag=args.add_container_tag)
python
def run(args): dirs, config, run_info_yaml = run_info.prep_system(args.sample_config, args.systemconfig) integrations = args.integrations if hasattr(args, "integrations") else {} world = run_info.organize(dirs, config, run_info_yaml, is_cwl=True, integrations=integrations) create.from_world(world, run_info_yaml, integrations=integrations, add_container_tag=args.add_container_tag)
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Run a CWL preparation pipeline.
[ "Run", "a", "CWL", "preparation", "pipeline", "." ]
6a9348c0054ccd5baffd22f1bb7d0422f6978b20
https://github.com/bcbio/bcbio-nextgen/blob/6a9348c0054ccd5baffd22f1bb7d0422f6978b20/bcbio/cwl/main.py#L6-L12
237,236
bcbio/bcbio-nextgen
bcbio/variation/coverage.py
assign_interval
def assign_interval(data): """Identify coverage based on percent of genome covered and relation to targets. Classifies coverage into 3 categories: - genome: Full genome coverage - regional: Regional coverage, like exome capture, with off-target reads - amplicon: Amplication based regional coverage without off-target reads """ if not dd.get_coverage_interval(data): vrs = dd.get_variant_regions_merged(data) callable_file = dd.get_sample_callable(data) if vrs: callable_size = pybedtools.BedTool(vrs).total_coverage() else: callable_size = pybedtools.BedTool(callable_file).total_coverage() total_size = sum([c.size for c in ref.file_contigs(dd.get_ref_file(data), data["config"])]) genome_cov_pct = callable_size / float(total_size) if genome_cov_pct > GENOME_COV_THRESH: cov_interval = "genome" offtarget_pct = 0.0 elif not vrs: cov_interval = "regional" offtarget_pct = 0.0 else: offtarget_pct = _count_offtarget(data, dd.get_align_bam(data) or dd.get_work_bam(data), vrs or callable_file, "variant_regions") if offtarget_pct > OFFTARGET_THRESH: cov_interval = "regional" else: cov_interval = "amplicon" logger.info("%s: Assigned coverage as '%s' with %.1f%% genome coverage and %.1f%% offtarget coverage" % (dd.get_sample_name(data), cov_interval, genome_cov_pct * 100.0, offtarget_pct * 100.0)) data["config"]["algorithm"]["coverage_interval"] = cov_interval return data
python
def assign_interval(data): if not dd.get_coverage_interval(data): vrs = dd.get_variant_regions_merged(data) callable_file = dd.get_sample_callable(data) if vrs: callable_size = pybedtools.BedTool(vrs).total_coverage() else: callable_size = pybedtools.BedTool(callable_file).total_coverage() total_size = sum([c.size for c in ref.file_contigs(dd.get_ref_file(data), data["config"])]) genome_cov_pct = callable_size / float(total_size) if genome_cov_pct > GENOME_COV_THRESH: cov_interval = "genome" offtarget_pct = 0.0 elif not vrs: cov_interval = "regional" offtarget_pct = 0.0 else: offtarget_pct = _count_offtarget(data, dd.get_align_bam(data) or dd.get_work_bam(data), vrs or callable_file, "variant_regions") if offtarget_pct > OFFTARGET_THRESH: cov_interval = "regional" else: cov_interval = "amplicon" logger.info("%s: Assigned coverage as '%s' with %.1f%% genome coverage and %.1f%% offtarget coverage" % (dd.get_sample_name(data), cov_interval, genome_cov_pct * 100.0, offtarget_pct * 100.0)) data["config"]["algorithm"]["coverage_interval"] = cov_interval return data
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Identify coverage based on percent of genome covered and relation to targets. Classifies coverage into 3 categories: - genome: Full genome coverage - regional: Regional coverage, like exome capture, with off-target reads - amplicon: Amplication based regional coverage without off-target reads
[ "Identify", "coverage", "based", "on", "percent", "of", "genome", "covered", "and", "relation", "to", "targets", "." ]
6a9348c0054ccd5baffd22f1bb7d0422f6978b20
https://github.com/bcbio/bcbio-nextgen/blob/6a9348c0054ccd5baffd22f1bb7d0422f6978b20/bcbio/variation/coverage.py#L29-L62
237,237
bcbio/bcbio-nextgen
bcbio/variation/coverage.py
calculate
def calculate(bam_file, data, sv_bed): """Calculate coverage in parallel using mosdepth. Removes duplicates and secondary reads from the counts: if ( b->core.flag & (BAM_FUNMAP | BAM_FSECONDARY | BAM_FQCFAIL | BAM_FDUP) ) continue; """ params = {"min": dd.get_coverage_depth_min(data)} variant_regions = dd.get_variant_regions_merged(data) if not variant_regions: variant_regions = _create_genome_regions(data) # Back compatible with previous pre-mosdepth callable files callable_file = os.path.join(utils.safe_makedir(os.path.join(dd.get_work_dir(data), "align", dd.get_sample_name(data))), "%s-coverage.callable.bed" % (dd.get_sample_name(data))) if not utils.file_uptodate(callable_file, bam_file): vr_quantize = ("0:1:%s:" % (params["min"]), ["NO_COVERAGE", "LOW_COVERAGE", "CALLABLE"]) to_calculate = [("variant_regions", variant_regions, vr_quantize, None, "coverage_perbase" in dd.get_tools_on(data)), ("sv_regions", bedutils.clean_file(sv_bed, data, prefix="svregions-"), None, None, False), ("coverage", bedutils.clean_file(dd.get_coverage(data), data, prefix="cov-"), None, DEPTH_THRESHOLDS, False)] depth_files = {} for target_name, region_bed, quantize, thresholds, per_base in to_calculate: if region_bed: cur_depth = {} depth_info = run_mosdepth(data, target_name, region_bed, quantize=quantize, thresholds=thresholds, per_base=per_base) for attr in ("dist", "regions", "thresholds", "per_base"): val = getattr(depth_info, attr, None) if val: cur_depth[attr] = val depth_files[target_name] = cur_depth if target_name == "variant_regions": callable_file = depth_info.quantize else: depth_files = {} final_callable = _subset_to_variant_regions(callable_file, variant_regions, data) return final_callable, depth_files
python
def calculate(bam_file, data, sv_bed): params = {"min": dd.get_coverage_depth_min(data)} variant_regions = dd.get_variant_regions_merged(data) if not variant_regions: variant_regions = _create_genome_regions(data) # Back compatible with previous pre-mosdepth callable files callable_file = os.path.join(utils.safe_makedir(os.path.join(dd.get_work_dir(data), "align", dd.get_sample_name(data))), "%s-coverage.callable.bed" % (dd.get_sample_name(data))) if not utils.file_uptodate(callable_file, bam_file): vr_quantize = ("0:1:%s:" % (params["min"]), ["NO_COVERAGE", "LOW_COVERAGE", "CALLABLE"]) to_calculate = [("variant_regions", variant_regions, vr_quantize, None, "coverage_perbase" in dd.get_tools_on(data)), ("sv_regions", bedutils.clean_file(sv_bed, data, prefix="svregions-"), None, None, False), ("coverage", bedutils.clean_file(dd.get_coverage(data), data, prefix="cov-"), None, DEPTH_THRESHOLDS, False)] depth_files = {} for target_name, region_bed, quantize, thresholds, per_base in to_calculate: if region_bed: cur_depth = {} depth_info = run_mosdepth(data, target_name, region_bed, quantize=quantize, thresholds=thresholds, per_base=per_base) for attr in ("dist", "regions", "thresholds", "per_base"): val = getattr(depth_info, attr, None) if val: cur_depth[attr] = val depth_files[target_name] = cur_depth if target_name == "variant_regions": callable_file = depth_info.quantize else: depth_files = {} final_callable = _subset_to_variant_regions(callable_file, variant_regions, data) return final_callable, depth_files
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Calculate coverage in parallel using mosdepth. Removes duplicates and secondary reads from the counts: if ( b->core.flag & (BAM_FUNMAP | BAM_FSECONDARY | BAM_FQCFAIL | BAM_FDUP) ) continue;
[ "Calculate", "coverage", "in", "parallel", "using", "mosdepth", "." ]
6a9348c0054ccd5baffd22f1bb7d0422f6978b20
https://github.com/bcbio/bcbio-nextgen/blob/6a9348c0054ccd5baffd22f1bb7d0422f6978b20/bcbio/variation/coverage.py#L73-L111
237,238
bcbio/bcbio-nextgen
bcbio/variation/coverage.py
_create_genome_regions
def _create_genome_regions(data): """Create whole genome contigs we want to process, only non-alts. Skips problem contigs like HLAs for downstream analysis. """ work_dir = utils.safe_makedir(os.path.join(dd.get_work_dir(data), "coverage", dd.get_sample_name(data))) variant_regions = os.path.join(work_dir, "target-genome.bed") with file_transaction(data, variant_regions) as tx_variant_regions: with open(tx_variant_regions, "w") as out_handle: for c in shared.get_noalt_contigs(data): out_handle.write("%s\t%s\t%s\n" % (c.name, 0, c.size)) return variant_regions
python
def _create_genome_regions(data): work_dir = utils.safe_makedir(os.path.join(dd.get_work_dir(data), "coverage", dd.get_sample_name(data))) variant_regions = os.path.join(work_dir, "target-genome.bed") with file_transaction(data, variant_regions) as tx_variant_regions: with open(tx_variant_regions, "w") as out_handle: for c in shared.get_noalt_contigs(data): out_handle.write("%s\t%s\t%s\n" % (c.name, 0, c.size)) return variant_regions
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Create whole genome contigs we want to process, only non-alts. Skips problem contigs like HLAs for downstream analysis.
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6a9348c0054ccd5baffd22f1bb7d0422f6978b20
https://github.com/bcbio/bcbio-nextgen/blob/6a9348c0054ccd5baffd22f1bb7d0422f6978b20/bcbio/variation/coverage.py#L113-L124
237,239
bcbio/bcbio-nextgen
bcbio/variation/coverage.py
_subset_to_variant_regions
def _subset_to_variant_regions(callable_file, variant_regions, data): """Subset output callable file to only variant regions of interest. """ out_file = "%s-vrsubset.bed" % utils.splitext_plus(callable_file)[0] if not utils.file_uptodate(out_file, callable_file): with file_transaction(data, out_file) as tx_out_file: with utils.open_gzipsafe(callable_file) as in_handle: pybedtools.BedTool(in_handle).intersect(variant_regions).saveas(tx_out_file) return out_file
python
def _subset_to_variant_regions(callable_file, variant_regions, data): out_file = "%s-vrsubset.bed" % utils.splitext_plus(callable_file)[0] if not utils.file_uptodate(out_file, callable_file): with file_transaction(data, out_file) as tx_out_file: with utils.open_gzipsafe(callable_file) as in_handle: pybedtools.BedTool(in_handle).intersect(variant_regions).saveas(tx_out_file) return out_file
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Subset output callable file to only variant regions of interest.
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6a9348c0054ccd5baffd22f1bb7d0422f6978b20
https://github.com/bcbio/bcbio-nextgen/blob/6a9348c0054ccd5baffd22f1bb7d0422f6978b20/bcbio/variation/coverage.py#L126-L134
237,240
bcbio/bcbio-nextgen
bcbio/variation/coverage.py
_average_genome_coverage
def _average_genome_coverage(data, bam_file): """Quickly calculate average coverage for whole genome files using indices. Includes all reads, with duplicates. Uses sampling of 10M reads. """ total = sum([c.size for c in ref.file_contigs(dd.get_ref_file(data), data["config"])]) read_counts = sum(x.aligned for x in bam.idxstats(bam_file, data)) with pysam.Samfile(bam_file, "rb") as pysam_bam: read_size = np.median(list(itertools.islice((a.query_length for a in pysam_bam.fetch()), int(1e7)))) avg_cov = float(read_counts * read_size) / total return avg_cov
python
def _average_genome_coverage(data, bam_file): total = sum([c.size for c in ref.file_contigs(dd.get_ref_file(data), data["config"])]) read_counts = sum(x.aligned for x in bam.idxstats(bam_file, data)) with pysam.Samfile(bam_file, "rb") as pysam_bam: read_size = np.median(list(itertools.islice((a.query_length for a in pysam_bam.fetch()), int(1e7)))) avg_cov = float(read_counts * read_size) / total return avg_cov
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Quickly calculate average coverage for whole genome files using indices. Includes all reads, with duplicates. Uses sampling of 10M reads.
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6a9348c0054ccd5baffd22f1bb7d0422f6978b20
https://github.com/bcbio/bcbio-nextgen/blob/6a9348c0054ccd5baffd22f1bb7d0422f6978b20/bcbio/variation/coverage.py#L171-L181
237,241
bcbio/bcbio-nextgen
bcbio/variation/coverage.py
regions_coverage
def regions_coverage(bed_file, target_name, data): """Generate coverage over regions of interest using mosdepth. """ ready_bed = tz.get_in(["depth", target_name, "regions"], data) if ready_bed: return ready_bed else: return run_mosdepth(data, target_name, bed_file).regions
python
def regions_coverage(bed_file, target_name, data): ready_bed = tz.get_in(["depth", target_name, "regions"], data) if ready_bed: return ready_bed else: return run_mosdepth(data, target_name, bed_file).regions
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Generate coverage over regions of interest using mosdepth.
[ "Generate", "coverage", "over", "regions", "of", "interest", "using", "mosdepth", "." ]
6a9348c0054ccd5baffd22f1bb7d0422f6978b20
https://github.com/bcbio/bcbio-nextgen/blob/6a9348c0054ccd5baffd22f1bb7d0422f6978b20/bcbio/variation/coverage.py#L197-L204
237,242
bcbio/bcbio-nextgen
bcbio/variation/coverage.py
coverage_region_detailed_stats
def coverage_region_detailed_stats(target_name, bed_file, data, out_dir): """ Calculate coverage at different completeness cutoff for region in coverage option. """ if bed_file and utils.file_exists(bed_file): ready_depth = tz.get_in(["depth", target_name], data) if ready_depth: cov_file = ready_depth["regions"] dist_file = ready_depth["dist"] thresholds_file = ready_depth.get("thresholds") out_cov_file = os.path.join(out_dir, os.path.basename(cov_file)) out_dist_file = os.path.join(out_dir, os.path.basename(dist_file)) out_thresholds_file = os.path.join(out_dir, os.path.basename(thresholds_file)) \ if thresholds_file and os.path.isfile(thresholds_file) else None if not utils.file_uptodate(out_cov_file, cov_file): utils.copy_plus(cov_file, out_cov_file) utils.copy_plus(dist_file, out_dist_file) utils.copy_plus(thresholds_file, out_thresholds_file) if out_thresholds_file else None return [out_cov_file, out_dist_file] + ([out_thresholds_file] if out_thresholds_file else []) return []
python
def coverage_region_detailed_stats(target_name, bed_file, data, out_dir): if bed_file and utils.file_exists(bed_file): ready_depth = tz.get_in(["depth", target_name], data) if ready_depth: cov_file = ready_depth["regions"] dist_file = ready_depth["dist"] thresholds_file = ready_depth.get("thresholds") out_cov_file = os.path.join(out_dir, os.path.basename(cov_file)) out_dist_file = os.path.join(out_dir, os.path.basename(dist_file)) out_thresholds_file = os.path.join(out_dir, os.path.basename(thresholds_file)) \ if thresholds_file and os.path.isfile(thresholds_file) else None if not utils.file_uptodate(out_cov_file, cov_file): utils.copy_plus(cov_file, out_cov_file) utils.copy_plus(dist_file, out_dist_file) utils.copy_plus(thresholds_file, out_thresholds_file) if out_thresholds_file else None return [out_cov_file, out_dist_file] + ([out_thresholds_file] if out_thresholds_file else []) return []
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Calculate coverage at different completeness cutoff for region in coverage option.
[ "Calculate", "coverage", "at", "different", "completeness", "cutoff", "for", "region", "in", "coverage", "option", "." ]
6a9348c0054ccd5baffd22f1bb7d0422f6978b20
https://github.com/bcbio/bcbio-nextgen/blob/6a9348c0054ccd5baffd22f1bb7d0422f6978b20/bcbio/variation/coverage.py#L249-L269
237,243
bcbio/bcbio-nextgen
bcbio/heterogeneity/loh.py
get_coords
def get_coords(data): """Retrieve coordinates of genes of interest for prioritization. Can read from CIViC input data or a supplied BED file of chrom, start, end and gene information. """ for category, vtypes in [("LOH", {"LOSS", "HETEROZYGOSITY"}), ("amplification", {"AMPLIFICATION"})]: out = tz.get_in([category, dd.get_genome_build(data)], _COORDS, {}) priority_file = dd.get_svprioritize(data) if priority_file: if os.path.basename(priority_file).find("civic") >= 0: for chrom, start, end, gene in _civic_regions(priority_file, vtypes, dd.get_disease(data)): out[gene] = (chrom, start, end) elif os.path.basename(priority_file).find(".bed") >= 0: for line in utils.open_gzipsafe(priority_file): parts = line.strip().split("\t") if len(parts) >= 4: chrom, start, end, gene = parts[:4] out[gene] = (chrom, int(start), int(end)) yield category, out
python
def get_coords(data): for category, vtypes in [("LOH", {"LOSS", "HETEROZYGOSITY"}), ("amplification", {"AMPLIFICATION"})]: out = tz.get_in([category, dd.get_genome_build(data)], _COORDS, {}) priority_file = dd.get_svprioritize(data) if priority_file: if os.path.basename(priority_file).find("civic") >= 0: for chrom, start, end, gene in _civic_regions(priority_file, vtypes, dd.get_disease(data)): out[gene] = (chrom, start, end) elif os.path.basename(priority_file).find(".bed") >= 0: for line in utils.open_gzipsafe(priority_file): parts = line.strip().split("\t") if len(parts) >= 4: chrom, start, end, gene = parts[:4] out[gene] = (chrom, int(start), int(end)) yield category, out
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Retrieve coordinates of genes of interest for prioritization. Can read from CIViC input data or a supplied BED file of chrom, start, end and gene information.
[ "Retrieve", "coordinates", "of", "genes", "of", "interest", "for", "prioritization", "." ]
6a9348c0054ccd5baffd22f1bb7d0422f6978b20
https://github.com/bcbio/bcbio-nextgen/blob/6a9348c0054ccd5baffd22f1bb7d0422f6978b20/bcbio/heterogeneity/loh.py#L29-L49
237,244
bcbio/bcbio-nextgen
bcbio/heterogeneity/loh.py
_civic_regions
def _civic_regions(civic_file, variant_types=None, diseases=None, drugs=None): """Retrieve gene regions and names filtered by variant_types and diseases. """ if isinstance(diseases, six.string_types): diseases = [diseases] with utils.open_gzipsafe(civic_file) as in_handle: reader = csv.reader(in_handle, delimiter="\t") for chrom, start, end, info_str in reader: info = edn_loads(info_str) if not variant_types or _matches(info["support"]["variants"], variant_types): if not diseases or _matches(info["support"]["diseases"], diseases): if not drugs or _matches(info["support"]["drugs"], drugs): yield (chrom, int(start), int(end), list(info["name"])[0])
python
def _civic_regions(civic_file, variant_types=None, diseases=None, drugs=None): if isinstance(diseases, six.string_types): diseases = [diseases] with utils.open_gzipsafe(civic_file) as in_handle: reader = csv.reader(in_handle, delimiter="\t") for chrom, start, end, info_str in reader: info = edn_loads(info_str) if not variant_types or _matches(info["support"]["variants"], variant_types): if not diseases or _matches(info["support"]["diseases"], diseases): if not drugs or _matches(info["support"]["drugs"], drugs): yield (chrom, int(start), int(end), list(info["name"])[0])
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Retrieve gene regions and names filtered by variant_types and diseases.
[ "Retrieve", "gene", "regions", "and", "names", "filtered", "by", "variant_types", "and", "diseases", "." ]
6a9348c0054ccd5baffd22f1bb7d0422f6978b20
https://github.com/bcbio/bcbio-nextgen/blob/6a9348c0054ccd5baffd22f1bb7d0422f6978b20/bcbio/heterogeneity/loh.py#L58-L70
237,245
bcbio/bcbio-nextgen
bcbio/heterogeneity/loh.py
summary_status
def summary_status(call, data): """Retrieve status in regions of interest, along with heterogeneity metrics. Provides output with overall purity and ploidy, along with region specific calls. """ out_file = None if call.get("vrn_file") and os.path.exists(call.get("vrn_file")): out_file = os.path.join(os.path.dirname(call["vrn_file"]), "%s-%s-lohsummary.yaml" % (dd.get_sample_name(data), call["variantcaller"])) if not utils.file_uptodate(out_file, call["vrn_file"]): out = {} if call["variantcaller"] == "titancna": out.update(_titancna_summary(call, data)) pass elif call["variantcaller"] == "purecn": out.update(_purecn_summary(call, data)) if out: out["description"] = dd.get_sample_name(data) out["variantcaller"] = call["variantcaller"] with file_transaction(data, out_file) as tx_out_file: with open(tx_out_file, "w") as out_handle: yaml.safe_dump(out, out_handle, default_flow_style=False, allow_unicode=False) return out_file if out_file and os.path.exists(out_file) else None
python
def summary_status(call, data): out_file = None if call.get("vrn_file") and os.path.exists(call.get("vrn_file")): out_file = os.path.join(os.path.dirname(call["vrn_file"]), "%s-%s-lohsummary.yaml" % (dd.get_sample_name(data), call["variantcaller"])) if not utils.file_uptodate(out_file, call["vrn_file"]): out = {} if call["variantcaller"] == "titancna": out.update(_titancna_summary(call, data)) pass elif call["variantcaller"] == "purecn": out.update(_purecn_summary(call, data)) if out: out["description"] = dd.get_sample_name(data) out["variantcaller"] = call["variantcaller"] with file_transaction(data, out_file) as tx_out_file: with open(tx_out_file, "w") as out_handle: yaml.safe_dump(out, out_handle, default_flow_style=False, allow_unicode=False) return out_file if out_file and os.path.exists(out_file) else None
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Retrieve status in regions of interest, along with heterogeneity metrics. Provides output with overall purity and ploidy, along with region specific calls.
[ "Retrieve", "status", "in", "regions", "of", "interest", "along", "with", "heterogeneity", "metrics", "." ]
6a9348c0054ccd5baffd22f1bb7d0422f6978b20
https://github.com/bcbio/bcbio-nextgen/blob/6a9348c0054ccd5baffd22f1bb7d0422f6978b20/bcbio/heterogeneity/loh.py#L72-L95
237,246
bcbio/bcbio-nextgen
bcbio/heterogeneity/loh.py
_check_copy_number_changes
def _check_copy_number_changes(svtype, cn, minor_cn, data): """Check if copy number changes match the expected svtype. """ if svtype == "LOH" and minor_cn == 0: return svtype elif svtype == "amplification" and cn > dd.get_ploidy(data): return svtype else: return "std"
python
def _check_copy_number_changes(svtype, cn, minor_cn, data): if svtype == "LOH" and minor_cn == 0: return svtype elif svtype == "amplification" and cn > dd.get_ploidy(data): return svtype else: return "std"
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Check if copy number changes match the expected svtype.
[ "Check", "if", "copy", "number", "changes", "match", "the", "expected", "svtype", "." ]
6a9348c0054ccd5baffd22f1bb7d0422f6978b20
https://github.com/bcbio/bcbio-nextgen/blob/6a9348c0054ccd5baffd22f1bb7d0422f6978b20/bcbio/heterogeneity/loh.py#L97-L105
237,247
bcbio/bcbio-nextgen
bcbio/heterogeneity/loh.py
_titancna_summary
def _titancna_summary(call, data): """Summarize purity, ploidy and LOH for TitanCNA. """ out = {} for svtype, coords in get_coords(data): cur_calls = {k: collections.defaultdict(int) for k in coords.keys()} with open(call["subclones"]) as in_handle: header = in_handle.readline().strip().split() for line in in_handle: val = dict(zip(header, line.strip().split())) start = int(val["Start_Position.bp."]) end = int(val["End_Position.bp."]) for region, cur_coords in coords.items(): if val["Chromosome"] == cur_coords[0] and are_overlapping((start, end), cur_coords[1:]): cur_calls[region][_check_copy_number_changes(svtype, _to_cn(val["Copy_Number"]), _to_cn(val["MinorCN"]), data)] += 1 out[svtype] = {r: _merge_cn_calls(c, svtype) for r, c in cur_calls.items()} with open(call["hetsummary"]) as in_handle: vals = dict(zip(in_handle.readline().strip().split("\t"), in_handle.readline().strip().split("\t"))) out["purity"] = vals["purity"] out["ploidy"] = vals["ploidy"] return out
python
def _titancna_summary(call, data): out = {} for svtype, coords in get_coords(data): cur_calls = {k: collections.defaultdict(int) for k in coords.keys()} with open(call["subclones"]) as in_handle: header = in_handle.readline().strip().split() for line in in_handle: val = dict(zip(header, line.strip().split())) start = int(val["Start_Position.bp."]) end = int(val["End_Position.bp."]) for region, cur_coords in coords.items(): if val["Chromosome"] == cur_coords[0] and are_overlapping((start, end), cur_coords[1:]): cur_calls[region][_check_copy_number_changes(svtype, _to_cn(val["Copy_Number"]), _to_cn(val["MinorCN"]), data)] += 1 out[svtype] = {r: _merge_cn_calls(c, svtype) for r, c in cur_calls.items()} with open(call["hetsummary"]) as in_handle: vals = dict(zip(in_handle.readline().strip().split("\t"), in_handle.readline().strip().split("\t"))) out["purity"] = vals["purity"] out["ploidy"] = vals["ploidy"] return out
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Summarize purity, ploidy and LOH for TitanCNA.
[ "Summarize", "purity", "ploidy", "and", "LOH", "for", "TitanCNA", "." ]
6a9348c0054ccd5baffd22f1bb7d0422f6978b20
https://github.com/bcbio/bcbio-nextgen/blob/6a9348c0054ccd5baffd22f1bb7d0422f6978b20/bcbio/heterogeneity/loh.py#L110-L132
237,248
bcbio/bcbio-nextgen
bcbio/heterogeneity/loh.py
_purecn_summary
def _purecn_summary(call, data): """Summarize purity, ploidy and LOH for PureCN. """ out = {} for svtype, coords in get_coords(data): cur_calls = {k: collections.defaultdict(int) for k in coords.keys()} with open(call["loh"]) as in_handle: in_handle.readline() # header for line in in_handle: _, chrom, start, end, _, cn, minor_cn = line.split(",")[:7] start = int(start) end = int(end) for region, cur_coords in coords.items(): if chrom == cur_coords[0] and are_overlapping((start, end), cur_coords[1:]): cur_calls[region][_check_copy_number_changes(svtype, _to_cn(cn), _to_cn(minor_cn), data)] += 1 out[svtype] = {r: _merge_cn_calls(c, svtype) for r, c in cur_calls.items()} with open(call["hetsummary"]) as in_handle: vals = dict(zip(in_handle.readline().strip().replace('"', '').split(","), in_handle.readline().strip().split(","))) out["purity"] = vals["Purity"] out["ploidy"] = vals["Ploidy"] return out
python
def _purecn_summary(call, data): out = {} for svtype, coords in get_coords(data): cur_calls = {k: collections.defaultdict(int) for k in coords.keys()} with open(call["loh"]) as in_handle: in_handle.readline() # header for line in in_handle: _, chrom, start, end, _, cn, minor_cn = line.split(",")[:7] start = int(start) end = int(end) for region, cur_coords in coords.items(): if chrom == cur_coords[0] and are_overlapping((start, end), cur_coords[1:]): cur_calls[region][_check_copy_number_changes(svtype, _to_cn(cn), _to_cn(minor_cn), data)] += 1 out[svtype] = {r: _merge_cn_calls(c, svtype) for r, c in cur_calls.items()} with open(call["hetsummary"]) as in_handle: vals = dict(zip(in_handle.readline().strip().replace('"', '').split(","), in_handle.readline().strip().split(","))) out["purity"] = vals["Purity"] out["ploidy"] = vals["Ploidy"] return out
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Summarize purity, ploidy and LOH for PureCN.
[ "Summarize", "purity", "ploidy", "and", "LOH", "for", "PureCN", "." ]
6a9348c0054ccd5baffd22f1bb7d0422f6978b20
https://github.com/bcbio/bcbio-nextgen/blob/6a9348c0054ccd5baffd22f1bb7d0422f6978b20/bcbio/heterogeneity/loh.py#L134-L155
237,249
bcbio/bcbio-nextgen
scripts/utils/plink_to_vcf.py
fix_vcf_line
def fix_vcf_line(parts, ref_base): """Orient VCF allele calls with respect to reference base. Handles cases with ref and variant swaps. strand complements. """ swap = {"1/1": "0/0", "0/1": "0/1", "0/0": "1/1", "./.": "./."} complements = {"G": "C", "A": "T", "C": "G", "T": "A", "N": "N"} varinfo, genotypes = fix_line_problems(parts) ref, var = varinfo[3:5] # non-reference regions or non-informative, can't do anything if ref_base in [None, "N"] or set(genotypes) == set(["./."]): varinfo = None # matching reference, all good elif ref_base == ref: assert ref_base == ref, (ref_base, parts) # swapped reference and alternate regions elif ref_base == var or ref in ["N", "0"]: varinfo[3] = var varinfo[4] = ref genotypes = [swap[x] for x in genotypes] # reference is on alternate strand elif ref_base != ref and complements.get(ref) == ref_base: varinfo[3] = complements[ref] varinfo[4] = ",".join([complements[v] for v in var.split(",")]) # unspecified alternative base elif ref_base != ref and var in ["N", "0"]: varinfo[3] = ref_base varinfo[4] = ref genotypes = [swap[x] for x in genotypes] # swapped and on alternate strand elif ref_base != ref and complements.get(var) == ref_base: varinfo[3] = complements[var] varinfo[4] = ",".join([complements[v] for v in ref.split(",")]) genotypes = [swap[x] for x in genotypes] else: print "Did not associate ref {0} with line: {1}".format( ref_base, varinfo) if varinfo is not None: return varinfo + genotypes
python
def fix_vcf_line(parts, ref_base): swap = {"1/1": "0/0", "0/1": "0/1", "0/0": "1/1", "./.": "./."} complements = {"G": "C", "A": "T", "C": "G", "T": "A", "N": "N"} varinfo, genotypes = fix_line_problems(parts) ref, var = varinfo[3:5] # non-reference regions or non-informative, can't do anything if ref_base in [None, "N"] or set(genotypes) == set(["./."]): varinfo = None # matching reference, all good elif ref_base == ref: assert ref_base == ref, (ref_base, parts) # swapped reference and alternate regions elif ref_base == var or ref in ["N", "0"]: varinfo[3] = var varinfo[4] = ref genotypes = [swap[x] for x in genotypes] # reference is on alternate strand elif ref_base != ref and complements.get(ref) == ref_base: varinfo[3] = complements[ref] varinfo[4] = ",".join([complements[v] for v in var.split(",")]) # unspecified alternative base elif ref_base != ref and var in ["N", "0"]: varinfo[3] = ref_base varinfo[4] = ref genotypes = [swap[x] for x in genotypes] # swapped and on alternate strand elif ref_base != ref and complements.get(var) == ref_base: varinfo[3] = complements[var] varinfo[4] = ",".join([complements[v] for v in ref.split(",")]) genotypes = [swap[x] for x in genotypes] else: print "Did not associate ref {0} with line: {1}".format( ref_base, varinfo) if varinfo is not None: return varinfo + genotypes
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Orient VCF allele calls with respect to reference base. Handles cases with ref and variant swaps. strand complements.
[ "Orient", "VCF", "allele", "calls", "with", "respect", "to", "reference", "base", "." ]
6a9348c0054ccd5baffd22f1bb7d0422f6978b20
https://github.com/bcbio/bcbio-nextgen/blob/6a9348c0054ccd5baffd22f1bb7d0422f6978b20/scripts/utils/plink_to_vcf.py#L79-L117
237,250
bcbio/bcbio-nextgen
scripts/utils/plink_to_vcf.py
fix_nonref_positions
def fix_nonref_positions(in_file, ref_file): """Fix Genotyping VCF positions where the bases are all variants. The plink/pseq output does not handle these correctly, and has all reference/variant bases reversed. """ ignore_chrs = ["."] ref2bit = twobit.TwoBitFile(open(ref_file)) out_file = in_file.replace("-raw.vcf", ".vcf") with open(in_file) as in_handle: with open(out_file, "w") as out_handle: for line in in_handle: if line.startswith("#"): out_handle.write(line) else: parts = line.rstrip("\r\n").split("\t") pos = int(parts[1]) # handle chr/non-chr naming if parts[0] not in ref2bit.keys() and parts[0].replace("chr", "") in ref2bit.keys(): parts[0] = parts[0].replace("chr", "") # handle X chromosome elif parts[0] not in ref2bit.keys() and parts[0] == "23": for test in ["X", "chrX"]: if test in ref2bit.keys(): parts[0] == test ref_base = None if parts[0] not in ignore_chrs: try: ref_base = ref2bit[parts[0]].get(pos-1, pos).upper() except Exception as msg: print "Skipping line. Failed to retrieve reference base for %s\n%s" % (str(parts), msg) parts = fix_vcf_line(parts, ref_base) if parts is not None: out_handle.write("\t".join(parts) + "\n") return out_file
python
def fix_nonref_positions(in_file, ref_file): ignore_chrs = ["."] ref2bit = twobit.TwoBitFile(open(ref_file)) out_file = in_file.replace("-raw.vcf", ".vcf") with open(in_file) as in_handle: with open(out_file, "w") as out_handle: for line in in_handle: if line.startswith("#"): out_handle.write(line) else: parts = line.rstrip("\r\n").split("\t") pos = int(parts[1]) # handle chr/non-chr naming if parts[0] not in ref2bit.keys() and parts[0].replace("chr", "") in ref2bit.keys(): parts[0] = parts[0].replace("chr", "") # handle X chromosome elif parts[0] not in ref2bit.keys() and parts[0] == "23": for test in ["X", "chrX"]: if test in ref2bit.keys(): parts[0] == test ref_base = None if parts[0] not in ignore_chrs: try: ref_base = ref2bit[parts[0]].get(pos-1, pos).upper() except Exception as msg: print "Skipping line. Failed to retrieve reference base for %s\n%s" % (str(parts), msg) parts = fix_vcf_line(parts, ref_base) if parts is not None: out_handle.write("\t".join(parts) + "\n") return out_file
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Fix Genotyping VCF positions where the bases are all variants. The plink/pseq output does not handle these correctly, and has all reference/variant bases reversed.
[ "Fix", "Genotyping", "VCF", "positions", "where", "the", "bases", "are", "all", "variants", "." ]
6a9348c0054ccd5baffd22f1bb7d0422f6978b20
https://github.com/bcbio/bcbio-nextgen/blob/6a9348c0054ccd5baffd22f1bb7d0422f6978b20/scripts/utils/plink_to_vcf.py#L119-L154
237,251
bcbio/bcbio-nextgen
bcbio/structural/cn_mops.py
run
def run(items, background=None): """Detect copy number variations from batched set of samples using cn.mops. """ if not background: background = [] names = [tz.get_in(["rgnames", "sample"], x) for x in items + background] work_bams = [x["align_bam"] for x in items + background] if len(items + background) < 2: raise ValueError("cn.mops only works on batches with multiple samples") data = items[0] work_dir = utils.safe_makedir(os.path.join(data["dirs"]["work"], "structural", names[0], "cn_mops")) parallel = {"type": "local", "cores": data["config"]["algorithm"].get("num_cores", 1), "progs": ["delly"]} with pysam.Samfile(work_bams[0], "rb") as pysam_work_bam: chroms = [None] if _get_regional_bed_file(items[0]) else pysam_work_bam.references out_files = run_multicore(_run_on_chrom, [(chrom, work_bams, names, work_dir, items) for chrom in chroms], data["config"], parallel) out_file = _combine_out_files(out_files, work_dir, data) out = [] for data in items: if "sv" not in data: data["sv"] = [] data["sv"].append({"variantcaller": "cn_mops", "vrn_file": _prep_sample_cnvs(out_file, data)}) out.append(data) return out
python
def run(items, background=None): if not background: background = [] names = [tz.get_in(["rgnames", "sample"], x) for x in items + background] work_bams = [x["align_bam"] for x in items + background] if len(items + background) < 2: raise ValueError("cn.mops only works on batches with multiple samples") data = items[0] work_dir = utils.safe_makedir(os.path.join(data["dirs"]["work"], "structural", names[0], "cn_mops")) parallel = {"type": "local", "cores": data["config"]["algorithm"].get("num_cores", 1), "progs": ["delly"]} with pysam.Samfile(work_bams[0], "rb") as pysam_work_bam: chroms = [None] if _get_regional_bed_file(items[0]) else pysam_work_bam.references out_files = run_multicore(_run_on_chrom, [(chrom, work_bams, names, work_dir, items) for chrom in chroms], data["config"], parallel) out_file = _combine_out_files(out_files, work_dir, data) out = [] for data in items: if "sv" not in data: data["sv"] = [] data["sv"].append({"variantcaller": "cn_mops", "vrn_file": _prep_sample_cnvs(out_file, data)}) out.append(data) return out
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Detect copy number variations from batched set of samples using cn.mops.
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6a9348c0054ccd5baffd22f1bb7d0422f6978b20
https://github.com/bcbio/bcbio-nextgen/blob/6a9348c0054ccd5baffd22f1bb7d0422f6978b20/bcbio/structural/cn_mops.py#L22-L48
237,252
bcbio/bcbio-nextgen
bcbio/structural/cn_mops.py
_combine_out_files
def _combine_out_files(chr_files, work_dir, data): """Concatenate all CNV calls into a single file. """ out_file = "%s.bed" % sshared.outname_from_inputs(chr_files) if not utils.file_exists(out_file): with file_transaction(data, out_file) as tx_out_file: with open(tx_out_file, "w") as out_handle: for chr_file in chr_files: with open(chr_file) as in_handle: is_empty = in_handle.readline().startswith("track name=empty") if not is_empty: with open(chr_file) as in_handle: shutil.copyfileobj(in_handle, out_handle) return out_file
python
def _combine_out_files(chr_files, work_dir, data): out_file = "%s.bed" % sshared.outname_from_inputs(chr_files) if not utils.file_exists(out_file): with file_transaction(data, out_file) as tx_out_file: with open(tx_out_file, "w") as out_handle: for chr_file in chr_files: with open(chr_file) as in_handle: is_empty = in_handle.readline().startswith("track name=empty") if not is_empty: with open(chr_file) as in_handle: shutil.copyfileobj(in_handle, out_handle) return out_file
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Concatenate all CNV calls into a single file.
[ "Concatenate", "all", "CNV", "calls", "into", "a", "single", "file", "." ]
6a9348c0054ccd5baffd22f1bb7d0422f6978b20
https://github.com/bcbio/bcbio-nextgen/blob/6a9348c0054ccd5baffd22f1bb7d0422f6978b20/bcbio/structural/cn_mops.py#L50-L63
237,253
bcbio/bcbio-nextgen
bcbio/structural/cn_mops.py
_prep_sample_cnvs
def _prep_sample_cnvs(cnv_file, data): """Convert a multiple sample CNV file into a single BED file for a sample. Handles matching and fixing names where R converts numerical IDs (1234) into strings by adding an X (X1234), and converts other characters into '.'s. http://stat.ethz.ch/R-manual/R-devel/library/base/html/make.names.html """ import pybedtools sample_name = tz.get_in(["rgnames", "sample"], data) def make_names(name): return re.sub("[^\w.]", '.', name) def matches_sample_name(feat): return (feat.name == sample_name or feat.name == "X%s" % sample_name or feat.name == make_names(sample_name)) def update_sample_name(feat): feat.name = sample_name return feat sample_file = os.path.join(os.path.dirname(cnv_file), "%s-cnv.bed" % sample_name) if not utils.file_exists(sample_file): with file_transaction(data, sample_file) as tx_out_file: with shared.bedtools_tmpdir(data): pybedtools.BedTool(cnv_file).filter(matches_sample_name).each(update_sample_name).saveas(tx_out_file) return sample_file
python
def _prep_sample_cnvs(cnv_file, data): import pybedtools sample_name = tz.get_in(["rgnames", "sample"], data) def make_names(name): return re.sub("[^\w.]", '.', name) def matches_sample_name(feat): return (feat.name == sample_name or feat.name == "X%s" % sample_name or feat.name == make_names(sample_name)) def update_sample_name(feat): feat.name = sample_name return feat sample_file = os.path.join(os.path.dirname(cnv_file), "%s-cnv.bed" % sample_name) if not utils.file_exists(sample_file): with file_transaction(data, sample_file) as tx_out_file: with shared.bedtools_tmpdir(data): pybedtools.BedTool(cnv_file).filter(matches_sample_name).each(update_sample_name).saveas(tx_out_file) return sample_file
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Convert a multiple sample CNV file into a single BED file for a sample. Handles matching and fixing names where R converts numerical IDs (1234) into strings by adding an X (X1234), and converts other characters into '.'s. http://stat.ethz.ch/R-manual/R-devel/library/base/html/make.names.html
[ "Convert", "a", "multiple", "sample", "CNV", "file", "into", "a", "single", "BED", "file", "for", "a", "sample", "." ]
6a9348c0054ccd5baffd22f1bb7d0422f6978b20
https://github.com/bcbio/bcbio-nextgen/blob/6a9348c0054ccd5baffd22f1bb7d0422f6978b20/bcbio/structural/cn_mops.py#L65-L87
237,254
bcbio/bcbio-nextgen
bcbio/structural/cn_mops.py
_run_on_chrom
def _run_on_chrom(chrom, work_bams, names, work_dir, items): """Run cn.mops on work BAMs for a specific chromosome. """ local_sitelib = utils.R_sitelib() batch = sshared.get_cur_batch(items) ext = "-%s-cnv" % batch if batch else "-cnv" out_file = os.path.join(work_dir, "%s%s-%s.bed" % (os.path.splitext(os.path.basename(work_bams[0]))[0], ext, chrom if chrom else "all")) if not utils.file_exists(out_file): with file_transaction(items[0], out_file) as tx_out_file: rcode = "%s-run.R" % os.path.splitext(out_file)[0] with open(rcode, "w") as out_handle: out_handle.write(_script.format(prep_str=_prep_load_script(work_bams, names, chrom, items), out_file=tx_out_file, local_sitelib=local_sitelib)) rscript = utils.Rscript_cmd() try: do.run([rscript, "--no-environ", rcode], "cn.mops CNV detection", items[0], log_error=False) except subprocess.CalledProcessError as msg: # cn.mops errors out if no CNVs found. Just write an empty file. if _allowed_cnmops_errorstates(str(msg)): with open(tx_out_file, "w") as out_handle: out_handle.write('track name=empty description="No CNVs found"\n') else: logger.exception() raise return [out_file]
python
def _run_on_chrom(chrom, work_bams, names, work_dir, items): local_sitelib = utils.R_sitelib() batch = sshared.get_cur_batch(items) ext = "-%s-cnv" % batch if batch else "-cnv" out_file = os.path.join(work_dir, "%s%s-%s.bed" % (os.path.splitext(os.path.basename(work_bams[0]))[0], ext, chrom if chrom else "all")) if not utils.file_exists(out_file): with file_transaction(items[0], out_file) as tx_out_file: rcode = "%s-run.R" % os.path.splitext(out_file)[0] with open(rcode, "w") as out_handle: out_handle.write(_script.format(prep_str=_prep_load_script(work_bams, names, chrom, items), out_file=tx_out_file, local_sitelib=local_sitelib)) rscript = utils.Rscript_cmd() try: do.run([rscript, "--no-environ", rcode], "cn.mops CNV detection", items[0], log_error=False) except subprocess.CalledProcessError as msg: # cn.mops errors out if no CNVs found. Just write an empty file. if _allowed_cnmops_errorstates(str(msg)): with open(tx_out_file, "w") as out_handle: out_handle.write('track name=empty description="No CNVs found"\n') else: logger.exception() raise return [out_file]
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Run cn.mops on work BAMs for a specific chromosome.
[ "Run", "cn", ".", "mops", "on", "work", "BAMs", "for", "a", "specific", "chromosome", "." ]
6a9348c0054ccd5baffd22f1bb7d0422f6978b20
https://github.com/bcbio/bcbio-nextgen/blob/6a9348c0054ccd5baffd22f1bb7d0422f6978b20/bcbio/structural/cn_mops.py#L91-L117
237,255
bcbio/bcbio-nextgen
bcbio/structural/cn_mops.py
_get_regional_bed_file
def _get_regional_bed_file(data): """If we are running a non-genome analysis, pull the regional file for analysis. """ variant_regions = bedutils.merge_overlaps(tz.get_in(["config", "algorithm", "variant_regions"], data), data) is_genome = data["config"]["algorithm"].get("coverage_interval", "exome").lower() in ["genome"] if variant_regions and utils.file_exists(variant_regions) and not is_genome: return variant_regions
python
def _get_regional_bed_file(data): variant_regions = bedutils.merge_overlaps(tz.get_in(["config", "algorithm", "variant_regions"], data), data) is_genome = data["config"]["algorithm"].get("coverage_interval", "exome").lower() in ["genome"] if variant_regions and utils.file_exists(variant_regions) and not is_genome: return variant_regions
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If we are running a non-genome analysis, pull the regional file for analysis.
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6a9348c0054ccd5baffd22f1bb7d0422f6978b20
https://github.com/bcbio/bcbio-nextgen/blob/6a9348c0054ccd5baffd22f1bb7d0422f6978b20/bcbio/structural/cn_mops.py#L134-L141
237,256
bcbio/bcbio-nextgen
bcbio/structural/cn_mops.py
_population_load_script
def _population_load_script(work_bams, names, chrom, pairmode, items): """Prepare BAMs for assessing CNVs in a population. """ bed_file = _get_regional_bed_file(items[0]) if bed_file: return _population_prep_targeted.format(bam_file_str=",".join(work_bams), names_str=",".join(names), chrom=chrom, num_cores=0, pairmode=pairmode, bed_file=bed_file) else: return _population_prep.format(bam_file_str=",".join(work_bams), names_str=",".join(names), chrom=chrom, num_cores=0, pairmode=pairmode)
python
def _population_load_script(work_bams, names, chrom, pairmode, items): bed_file = _get_regional_bed_file(items[0]) if bed_file: return _population_prep_targeted.format(bam_file_str=",".join(work_bams), names_str=",".join(names), chrom=chrom, num_cores=0, pairmode=pairmode, bed_file=bed_file) else: return _population_prep.format(bam_file_str=",".join(work_bams), names_str=",".join(names), chrom=chrom, num_cores=0, pairmode=pairmode)
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Prepare BAMs for assessing CNVs in a population.
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6a9348c0054ccd5baffd22f1bb7d0422f6978b20
https://github.com/bcbio/bcbio-nextgen/blob/6a9348c0054ccd5baffd22f1bb7d0422f6978b20/bcbio/structural/cn_mops.py#L143-L152
237,257
bcbio/bcbio-nextgen
bcbio/ngsalign/postalign.py
tobam_cl
def tobam_cl(data, out_file, is_paired=False): """Prepare command line for producing de-duplicated sorted output. - If no deduplication, sort and prepare a BAM file. - If paired, then use samblaster and prepare discordant outputs. - If unpaired, use biobambam's bammarkduplicates """ do_dedup = _check_dedup(data) umi_consensus = dd.get_umi_consensus(data) with file_transaction(data, out_file) as tx_out_file: if not do_dedup: yield (sam_to_sortbam_cl(data, tx_out_file), tx_out_file) elif umi_consensus: yield (_sam_to_grouped_umi_cl(data, umi_consensus, tx_out_file), tx_out_file) elif is_paired and _need_sr_disc_reads(data) and not _too_many_contigs(dd.get_ref_file(data)): sr_file = "%s-sr.bam" % os.path.splitext(out_file)[0] disc_file = "%s-disc.bam" % os.path.splitext(out_file)[0] with file_transaction(data, sr_file) as tx_sr_file: with file_transaction(data, disc_file) as tx_disc_file: yield (samblaster_dedup_sort(data, tx_out_file, tx_sr_file, tx_disc_file), tx_out_file) else: yield (_biobambam_dedup_sort(data, tx_out_file), tx_out_file)
python
def tobam_cl(data, out_file, is_paired=False): do_dedup = _check_dedup(data) umi_consensus = dd.get_umi_consensus(data) with file_transaction(data, out_file) as tx_out_file: if not do_dedup: yield (sam_to_sortbam_cl(data, tx_out_file), tx_out_file) elif umi_consensus: yield (_sam_to_grouped_umi_cl(data, umi_consensus, tx_out_file), tx_out_file) elif is_paired and _need_sr_disc_reads(data) and not _too_many_contigs(dd.get_ref_file(data)): sr_file = "%s-sr.bam" % os.path.splitext(out_file)[0] disc_file = "%s-disc.bam" % os.path.splitext(out_file)[0] with file_transaction(data, sr_file) as tx_sr_file: with file_transaction(data, disc_file) as tx_disc_file: yield (samblaster_dedup_sort(data, tx_out_file, tx_sr_file, tx_disc_file), tx_out_file) else: yield (_biobambam_dedup_sort(data, tx_out_file), tx_out_file)
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Prepare command line for producing de-duplicated sorted output. - If no deduplication, sort and prepare a BAM file. - If paired, then use samblaster and prepare discordant outputs. - If unpaired, use biobambam's bammarkduplicates
[ "Prepare", "command", "line", "for", "producing", "de", "-", "duplicated", "sorted", "output", "." ]
6a9348c0054ccd5baffd22f1bb7d0422f6978b20
https://github.com/bcbio/bcbio-nextgen/blob/6a9348c0054ccd5baffd22f1bb7d0422f6978b20/bcbio/ngsalign/postalign.py#L30-L52
237,258
bcbio/bcbio-nextgen
bcbio/ngsalign/postalign.py
_get_cores_memory
def _get_cores_memory(data, downscale=2): """Retrieve cores and memory, using samtools as baseline. For memory, scaling down because we share with alignment and de-duplication. """ resources = config_utils.get_resources("samtools", data["config"]) num_cores = data["config"]["algorithm"].get("num_cores", 1) max_mem = config_utils.adjust_memory(resources.get("memory", "2G"), downscale, "decrease").upper() return num_cores, max_mem
python
def _get_cores_memory(data, downscale=2): resources = config_utils.get_resources("samtools", data["config"]) num_cores = data["config"]["algorithm"].get("num_cores", 1) max_mem = config_utils.adjust_memory(resources.get("memory", "2G"), downscale, "decrease").upper() return num_cores, max_mem
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Retrieve cores and memory, using samtools as baseline. For memory, scaling down because we share with alignment and de-duplication.
[ "Retrieve", "cores", "and", "memory", "using", "samtools", "as", "baseline", "." ]
6a9348c0054ccd5baffd22f1bb7d0422f6978b20
https://github.com/bcbio/bcbio-nextgen/blob/6a9348c0054ccd5baffd22f1bb7d0422f6978b20/bcbio/ngsalign/postalign.py#L69-L78
237,259
bcbio/bcbio-nextgen
bcbio/ngsalign/postalign.py
sam_to_sortbam_cl
def sam_to_sortbam_cl(data, tx_out_file, name_sort=False): """Convert to sorted BAM output. Set name_sort to True to sort reads by queryname """ samtools = config_utils.get_program("samtools", data["config"]) cores, mem = _get_cores_memory(data, downscale=2) tmp_file = "%s-sorttmp" % utils.splitext_plus(tx_out_file)[0] sort_flag = "-n" if name_sort else "" return ("{samtools} sort -@ {cores} -m {mem} {sort_flag} " "-T {tmp_file} -o {tx_out_file} /dev/stdin".format(**locals()))
python
def sam_to_sortbam_cl(data, tx_out_file, name_sort=False): samtools = config_utils.get_program("samtools", data["config"]) cores, mem = _get_cores_memory(data, downscale=2) tmp_file = "%s-sorttmp" % utils.splitext_plus(tx_out_file)[0] sort_flag = "-n" if name_sort else "" return ("{samtools} sort -@ {cores} -m {mem} {sort_flag} " "-T {tmp_file} -o {tx_out_file} /dev/stdin".format(**locals()))
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Convert to sorted BAM output. Set name_sort to True to sort reads by queryname
[ "Convert", "to", "sorted", "BAM", "output", "." ]
6a9348c0054ccd5baffd22f1bb7d0422f6978b20
https://github.com/bcbio/bcbio-nextgen/blob/6a9348c0054ccd5baffd22f1bb7d0422f6978b20/bcbio/ngsalign/postalign.py#L80-L90
237,260
bcbio/bcbio-nextgen
bcbio/ngsalign/postalign.py
samblaster_dedup_sort
def samblaster_dedup_sort(data, tx_out_file, tx_sr_file, tx_disc_file): """Deduplicate and sort with samblaster, produces split read and discordant pair files. """ samblaster = config_utils.get_program("samblaster", data["config"]) samtools = config_utils.get_program("samtools", data["config"]) tmp_prefix = "%s-sorttmp" % utils.splitext_plus(tx_out_file)[0] tobam_cmd = ("{samtools} sort {sort_opt} -@ {cores} -m {mem} -T {tmp_prefix}-{dext} {out_file} -") # full BAM -- associate more memory and cores cores, mem = _get_cores_memory(data, downscale=2) # Potentially downsample to maximum coverage here if not splitting and whole genome sample ds_cmd = None if data.get("align_split") else bam.get_maxcov_downsample_cl(data, "samtools") sort_opt = "-n" if data.get("align_split") and dd.get_mark_duplicates(data) else "" if ds_cmd: dedup_cmd = "%s %s > %s" % (tobam_cmd.format(out_file="", dext="full", **locals()), ds_cmd, tx_out_file) else: dedup_cmd = tobam_cmd.format(out_file="-o %s" % tx_out_file, dext="full", **locals()) # split and discordant BAMs -- give less memory/cores since smaller files sort_opt = "" cores, mem = _get_cores_memory(data, downscale=4) splitter_cmd = tobam_cmd.format(out_file="-o %s" % tx_sr_file, dext="spl", **locals()) discordant_cmd = tobam_cmd.format(out_file="-o %s" % tx_disc_file, dext="disc", **locals()) # samblaster 0.1.22 and better require the -M flag for compatibility with bwa-mem cmd = ("{samblaster} --addMateTags -M --splitterFile >({splitter_cmd}) --discordantFile >({discordant_cmd}) " "| {dedup_cmd}") return cmd.format(**locals())
python
def samblaster_dedup_sort(data, tx_out_file, tx_sr_file, tx_disc_file): samblaster = config_utils.get_program("samblaster", data["config"]) samtools = config_utils.get_program("samtools", data["config"]) tmp_prefix = "%s-sorttmp" % utils.splitext_plus(tx_out_file)[0] tobam_cmd = ("{samtools} sort {sort_opt} -@ {cores} -m {mem} -T {tmp_prefix}-{dext} {out_file} -") # full BAM -- associate more memory and cores cores, mem = _get_cores_memory(data, downscale=2) # Potentially downsample to maximum coverage here if not splitting and whole genome sample ds_cmd = None if data.get("align_split") else bam.get_maxcov_downsample_cl(data, "samtools") sort_opt = "-n" if data.get("align_split") and dd.get_mark_duplicates(data) else "" if ds_cmd: dedup_cmd = "%s %s > %s" % (tobam_cmd.format(out_file="", dext="full", **locals()), ds_cmd, tx_out_file) else: dedup_cmd = tobam_cmd.format(out_file="-o %s" % tx_out_file, dext="full", **locals()) # split and discordant BAMs -- give less memory/cores since smaller files sort_opt = "" cores, mem = _get_cores_memory(data, downscale=4) splitter_cmd = tobam_cmd.format(out_file="-o %s" % tx_sr_file, dext="spl", **locals()) discordant_cmd = tobam_cmd.format(out_file="-o %s" % tx_disc_file, dext="disc", **locals()) # samblaster 0.1.22 and better require the -M flag for compatibility with bwa-mem cmd = ("{samblaster} --addMateTags -M --splitterFile >({splitter_cmd}) --discordantFile >({discordant_cmd}) " "| {dedup_cmd}") return cmd.format(**locals())
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Deduplicate and sort with samblaster, produces split read and discordant pair files.
[ "Deduplicate", "and", "sort", "with", "samblaster", "produces", "split", "read", "and", "discordant", "pair", "files", "." ]
6a9348c0054ccd5baffd22f1bb7d0422f6978b20
https://github.com/bcbio/bcbio-nextgen/blob/6a9348c0054ccd5baffd22f1bb7d0422f6978b20/bcbio/ngsalign/postalign.py#L92-L116
237,261
bcbio/bcbio-nextgen
bcbio/ngsalign/postalign.py
_biobambam_dedup_sort
def _biobambam_dedup_sort(data, tx_out_file): """Perform streaming deduplication and sorting with biobambam's bamsormadup """ samtools = config_utils.get_program("samtools", data["config"]) cores, mem = _get_cores_memory(data, downscale=2) tmp_file = "%s-sorttmp" % utils.splitext_plus(tx_out_file)[0] if data.get("align_split"): sort_opt = "-n" if data.get("align_split") and _check_dedup(data) else "" cmd = "{samtools} sort %s -@ {cores} -m {mem} -O bam -T {tmp_file}-namesort -o {tx_out_file} -" % sort_opt else: # scale core usage to avoid memory issues with larger WGS samples cores = max(1, int(math.ceil(cores * 0.75))) ds_cmd = bam.get_maxcov_downsample_cl(data, "bamsormadup") bamsormadup = config_utils.get_program("bamsormadup", data) cmd = ("{bamsormadup} inputformat=sam threads={cores} tmpfile={tmp_file}-markdup " "SO=coordinate %s > {tx_out_file}" % ds_cmd) return cmd.format(**locals())
python
def _biobambam_dedup_sort(data, tx_out_file): samtools = config_utils.get_program("samtools", data["config"]) cores, mem = _get_cores_memory(data, downscale=2) tmp_file = "%s-sorttmp" % utils.splitext_plus(tx_out_file)[0] if data.get("align_split"): sort_opt = "-n" if data.get("align_split") and _check_dedup(data) else "" cmd = "{samtools} sort %s -@ {cores} -m {mem} -O bam -T {tmp_file}-namesort -o {tx_out_file} -" % sort_opt else: # scale core usage to avoid memory issues with larger WGS samples cores = max(1, int(math.ceil(cores * 0.75))) ds_cmd = bam.get_maxcov_downsample_cl(data, "bamsormadup") bamsormadup = config_utils.get_program("bamsormadup", data) cmd = ("{bamsormadup} inputformat=sam threads={cores} tmpfile={tmp_file}-markdup " "SO=coordinate %s > {tx_out_file}" % ds_cmd) return cmd.format(**locals())
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Perform streaming deduplication and sorting with biobambam's bamsormadup
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6a9348c0054ccd5baffd22f1bb7d0422f6978b20
https://github.com/bcbio/bcbio-nextgen/blob/6a9348c0054ccd5baffd22f1bb7d0422f6978b20/bcbio/ngsalign/postalign.py#L118-L134
237,262
bcbio/bcbio-nextgen
bcbio/ngsalign/postalign.py
_sam_to_grouped_umi_cl
def _sam_to_grouped_umi_cl(data, umi_consensus, tx_out_file): """Mark duplicates on aligner output and convert to grouped UMIs by position. Works with either a separate umi_file or UMI embedded in the read names. """ tmp_file = "%s-sorttmp" % utils.splitext_plus(tx_out_file)[0] jvm_opts = _get_fgbio_jvm_opts(data, os.path.dirname(tmp_file), 1) cores, mem = _get_cores_memory(data) bamsormadup = config_utils.get_program("bamsormadup", data) cmd = ("{bamsormadup} tmpfile={tmp_file}-markdup inputformat=sam threads={cores} outputformat=bam " "level=0 SO=coordinate | ") # UMIs in a separate file if os.path.exists(umi_consensus) and os.path.isfile(umi_consensus): cmd += "fgbio {jvm_opts} AnnotateBamWithUmis -i /dev/stdin -f {umi_consensus} -o {tx_out_file}" # UMIs embedded in read name else: cmd += ("%s %s bamtag - | samtools view -b > {tx_out_file}" % (utils.get_program_python("umis"), config_utils.get_program("umis", data["config"]))) return cmd.format(**locals())
python
def _sam_to_grouped_umi_cl(data, umi_consensus, tx_out_file): tmp_file = "%s-sorttmp" % utils.splitext_plus(tx_out_file)[0] jvm_opts = _get_fgbio_jvm_opts(data, os.path.dirname(tmp_file), 1) cores, mem = _get_cores_memory(data) bamsormadup = config_utils.get_program("bamsormadup", data) cmd = ("{bamsormadup} tmpfile={tmp_file}-markdup inputformat=sam threads={cores} outputformat=bam " "level=0 SO=coordinate | ") # UMIs in a separate file if os.path.exists(umi_consensus) and os.path.isfile(umi_consensus): cmd += "fgbio {jvm_opts} AnnotateBamWithUmis -i /dev/stdin -f {umi_consensus} -o {tx_out_file}" # UMIs embedded in read name else: cmd += ("%s %s bamtag - | samtools view -b > {tx_out_file}" % (utils.get_program_python("umis"), config_utils.get_program("umis", data["config"]))) return cmd.format(**locals())
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Mark duplicates on aligner output and convert to grouped UMIs by position. Works with either a separate umi_file or UMI embedded in the read names.
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6a9348c0054ccd5baffd22f1bb7d0422f6978b20
https://github.com/bcbio/bcbio-nextgen/blob/6a9348c0054ccd5baffd22f1bb7d0422f6978b20/bcbio/ngsalign/postalign.py#L136-L155
237,263
bcbio/bcbio-nextgen
bcbio/ngsalign/postalign.py
umi_consensus
def umi_consensus(data): """Convert UMI grouped reads into fastq pair for re-alignment. """ align_bam = dd.get_work_bam(data) umi_method, umi_tag = _check_umi_type(align_bam) f1_out = "%s-cumi-1.fq.gz" % utils.splitext_plus(align_bam)[0] f2_out = "%s-cumi-2.fq.gz" % utils.splitext_plus(align_bam)[0] avg_coverage = coverage.get_average_coverage("rawumi", dd.get_variant_regions(data), data) if not utils.file_uptodate(f1_out, align_bam): with file_transaction(data, f1_out, f2_out) as (tx_f1_out, tx_f2_out): jvm_opts = _get_fgbio_jvm_opts(data, os.path.dirname(tx_f1_out), 2) # Improve speeds by avoiding compression read/write bottlenecks io_opts = "--async-io=true --compression=0" est_options = _estimate_fgbio_defaults(avg_coverage) group_opts, cons_opts, filter_opts = _get_fgbio_options(data, est_options, umi_method) cons_method = "CallDuplexConsensusReads" if umi_method == "paired" else "CallMolecularConsensusReads" tempfile = "%s-bamtofastq-tmp" % utils.splitext_plus(f1_out)[0] ref_file = dd.get_ref_file(data) cmd = ("unset JAVA_HOME && " "fgbio {jvm_opts} {io_opts} GroupReadsByUmi {group_opts} -t {umi_tag} -s {umi_method} " "-i {align_bam} | " "fgbio {jvm_opts} {io_opts} {cons_method} {cons_opts} --sort-order=:none: " "-i /dev/stdin -o /dev/stdout | " "fgbio {jvm_opts} {io_opts} FilterConsensusReads {filter_opts} -r {ref_file} " "-i /dev/stdin -o /dev/stdout | " "bamtofastq collate=1 T={tempfile} F={tx_f1_out} F2={tx_f2_out} tags=cD,cM,cE gz=1") do.run(cmd.format(**locals()), "UMI consensus fastq generation") return f1_out, f2_out, avg_coverage
python
def umi_consensus(data): align_bam = dd.get_work_bam(data) umi_method, umi_tag = _check_umi_type(align_bam) f1_out = "%s-cumi-1.fq.gz" % utils.splitext_plus(align_bam)[0] f2_out = "%s-cumi-2.fq.gz" % utils.splitext_plus(align_bam)[0] avg_coverage = coverage.get_average_coverage("rawumi", dd.get_variant_regions(data), data) if not utils.file_uptodate(f1_out, align_bam): with file_transaction(data, f1_out, f2_out) as (tx_f1_out, tx_f2_out): jvm_opts = _get_fgbio_jvm_opts(data, os.path.dirname(tx_f1_out), 2) # Improve speeds by avoiding compression read/write bottlenecks io_opts = "--async-io=true --compression=0" est_options = _estimate_fgbio_defaults(avg_coverage) group_opts, cons_opts, filter_opts = _get_fgbio_options(data, est_options, umi_method) cons_method = "CallDuplexConsensusReads" if umi_method == "paired" else "CallMolecularConsensusReads" tempfile = "%s-bamtofastq-tmp" % utils.splitext_plus(f1_out)[0] ref_file = dd.get_ref_file(data) cmd = ("unset JAVA_HOME && " "fgbio {jvm_opts} {io_opts} GroupReadsByUmi {group_opts} -t {umi_tag} -s {umi_method} " "-i {align_bam} | " "fgbio {jvm_opts} {io_opts} {cons_method} {cons_opts} --sort-order=:none: " "-i /dev/stdin -o /dev/stdout | " "fgbio {jvm_opts} {io_opts} FilterConsensusReads {filter_opts} -r {ref_file} " "-i /dev/stdin -o /dev/stdout | " "bamtofastq collate=1 T={tempfile} F={tx_f1_out} F2={tx_f2_out} tags=cD,cM,cE gz=1") do.run(cmd.format(**locals()), "UMI consensus fastq generation") return f1_out, f2_out, avg_coverage
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Convert UMI grouped reads into fastq pair for re-alignment.
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6a9348c0054ccd5baffd22f1bb7d0422f6978b20
https://github.com/bcbio/bcbio-nextgen/blob/6a9348c0054ccd5baffd22f1bb7d0422f6978b20/bcbio/ngsalign/postalign.py#L188-L215
237,264
bcbio/bcbio-nextgen
bcbio/ngsalign/postalign.py
_get_fgbio_options
def _get_fgbio_options(data, estimated_defaults, umi_method): """Get adjustable, through resources, or default options for fgbio. """ group_opts = ["--edits", "--min-map-q"] cons_opts = ["--min-input-base-quality"] if umi_method != "paired": cons_opts += ["--min-reads", "--max-reads"] filter_opts = ["--min-reads", "--min-base-quality", "--max-base-error-rate"] defaults = {"--min-reads": "1", "--max-reads": "100000", "--min-map-q": "1", "--min-base-quality": "13", "--max-base-error-rate": "0.1", "--min-input-base-quality": "2", "--edits": "1"} defaults.update(estimated_defaults) ropts = config_utils.get_resources("fgbio", data["config"]).get("options", []) assert len(ropts) % 2 == 0, "Expect even number of options for fgbio" % ropts ropts = dict(tz.partition(2, ropts)) # Back compatibility for older base quality settings if "--min-consensus-base-quality" in ropts: ropts["--min-base-quality"] = ropts.pop("--min-consensus-base-quality") defaults.update(ropts) group_out = " ".join(["%s=%s" % (x, defaults[x]) for x in group_opts]) cons_out = " ".join(["%s=%s" % (x, defaults[x]) for x in cons_opts]) filter_out = " ".join(["%s=%s" % (x, defaults[x]) for x in filter_opts]) if umi_method != "paired": cons_out += " --output-per-base-tags=false" return group_out, cons_out, filter_out
python
def _get_fgbio_options(data, estimated_defaults, umi_method): group_opts = ["--edits", "--min-map-q"] cons_opts = ["--min-input-base-quality"] if umi_method != "paired": cons_opts += ["--min-reads", "--max-reads"] filter_opts = ["--min-reads", "--min-base-quality", "--max-base-error-rate"] defaults = {"--min-reads": "1", "--max-reads": "100000", "--min-map-q": "1", "--min-base-quality": "13", "--max-base-error-rate": "0.1", "--min-input-base-quality": "2", "--edits": "1"} defaults.update(estimated_defaults) ropts = config_utils.get_resources("fgbio", data["config"]).get("options", []) assert len(ropts) % 2 == 0, "Expect even number of options for fgbio" % ropts ropts = dict(tz.partition(2, ropts)) # Back compatibility for older base quality settings if "--min-consensus-base-quality" in ropts: ropts["--min-base-quality"] = ropts.pop("--min-consensus-base-quality") defaults.update(ropts) group_out = " ".join(["%s=%s" % (x, defaults[x]) for x in group_opts]) cons_out = " ".join(["%s=%s" % (x, defaults[x]) for x in cons_opts]) filter_out = " ".join(["%s=%s" % (x, defaults[x]) for x in filter_opts]) if umi_method != "paired": cons_out += " --output-per-base-tags=false" return group_out, cons_out, filter_out
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Get adjustable, through resources, or default options for fgbio.
[ "Get", "adjustable", "through", "resources", "or", "default", "options", "for", "fgbio", "." ]
6a9348c0054ccd5baffd22f1bb7d0422f6978b20
https://github.com/bcbio/bcbio-nextgen/blob/6a9348c0054ccd5baffd22f1bb7d0422f6978b20/bcbio/ngsalign/postalign.py#L235-L263
237,265
bcbio/bcbio-nextgen
bcbio/ngsalign/postalign.py
_check_dedup
def _check_dedup(data): """Check configuration for de-duplication. Defaults to no de-duplication for RNA-seq and small RNA, the back compatible default. Allow overwriting with explicit `mark_duplicates: true` setting. Also defaults to false for no alignment inputs. """ if dd.get_analysis(data).lower() in ["rna-seq", "smallrna-seq"] or not dd.get_aligner(data): dup_param = utils.get_in(data, ("config", "algorithm", "mark_duplicates"), False) else: dup_param = utils.get_in(data, ("config", "algorithm", "mark_duplicates"), True) if dup_param and isinstance(dup_param, six.string_types): logger.info("Warning: bcbio no longer support explicit setting of mark_duplicate algorithm. " "Using best-practice choice based on input data.") dup_param = True return dup_param
python
def _check_dedup(data): if dd.get_analysis(data).lower() in ["rna-seq", "smallrna-seq"] or not dd.get_aligner(data): dup_param = utils.get_in(data, ("config", "algorithm", "mark_duplicates"), False) else: dup_param = utils.get_in(data, ("config", "algorithm", "mark_duplicates"), True) if dup_param and isinstance(dup_param, six.string_types): logger.info("Warning: bcbio no longer support explicit setting of mark_duplicate algorithm. " "Using best-practice choice based on input data.") dup_param = True return dup_param
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Check configuration for de-duplication. Defaults to no de-duplication for RNA-seq and small RNA, the back compatible default. Allow overwriting with explicit `mark_duplicates: true` setting. Also defaults to false for no alignment inputs.
[ "Check", "configuration", "for", "de", "-", "duplication", "." ]
6a9348c0054ccd5baffd22f1bb7d0422f6978b20
https://github.com/bcbio/bcbio-nextgen/blob/6a9348c0054ccd5baffd22f1bb7d0422f6978b20/bcbio/ngsalign/postalign.py#L265-L281
237,266
bcbio/bcbio-nextgen
bcbio/ngsalign/postalign.py
dedup_bam
def dedup_bam(in_bam, data): """Perform non-stream based deduplication of BAM input files using biobambam. """ if _check_dedup(data): out_file = os.path.join(utils.safe_makedir(os.path.join(os.getcwd(), "align", dd.get_sample_name(data))), "%s-dedup%s" % utils.splitext_plus(os.path.basename(in_bam))) if not utils.file_exists(out_file): with tx_tmpdir(data) as tmpdir: with file_transaction(data, out_file) as tx_out_file: bammarkduplicates = config_utils.get_program("bammarkduplicates", data["config"]) base_tmp = os.path.join(tmpdir, os.path.splitext(os.path.basename(tx_out_file))[0]) cores, mem = _get_cores_memory(data, downscale=2) cmd = ("{bammarkduplicates} tmpfile={base_tmp}-markdup " "markthreads={cores} I={in_bam} O={tx_out_file}") do.run(cmd.format(**locals()), "De-duplication with biobambam") bam.index(out_file, data["config"]) return out_file else: return in_bam
python
def dedup_bam(in_bam, data): if _check_dedup(data): out_file = os.path.join(utils.safe_makedir(os.path.join(os.getcwd(), "align", dd.get_sample_name(data))), "%s-dedup%s" % utils.splitext_plus(os.path.basename(in_bam))) if not utils.file_exists(out_file): with tx_tmpdir(data) as tmpdir: with file_transaction(data, out_file) as tx_out_file: bammarkduplicates = config_utils.get_program("bammarkduplicates", data["config"]) base_tmp = os.path.join(tmpdir, os.path.splitext(os.path.basename(tx_out_file))[0]) cores, mem = _get_cores_memory(data, downscale=2) cmd = ("{bammarkduplicates} tmpfile={base_tmp}-markdup " "markthreads={cores} I={in_bam} O={tx_out_file}") do.run(cmd.format(**locals()), "De-duplication with biobambam") bam.index(out_file, data["config"]) return out_file else: return in_bam
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Perform non-stream based deduplication of BAM input files using biobambam.
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6a9348c0054ccd5baffd22f1bb7d0422f6978b20
https://github.com/bcbio/bcbio-nextgen/blob/6a9348c0054ccd5baffd22f1bb7d0422f6978b20/bcbio/ngsalign/postalign.py#L283-L301
237,267
bcbio/bcbio-nextgen
bcbio/structural/titancna.py
_finalize_sv
def _finalize_sv(solution_file, data): """Add output files from TitanCNA calling optional solution. """ out = {"variantcaller": "titancna"} with open(solution_file) as in_handle: solution = dict(zip(in_handle.readline().strip("\r\n").split("\t"), in_handle.readline().strip("\r\n").split("\t"))) if solution.get("path"): out["purity"] = solution["purity"] out["ploidy"] = solution["ploidy"] out["cellular_prevalence"] = [x.strip() for x in solution["cellPrev"].split(",")] base = os.path.basename(solution["path"]) out["plot"] = dict([(n, solution["path"] + ext) for (n, ext) in [("rplots", ".Rplots.pdf"), ("cf", "/%s_CF.pdf" % base), ("cna", "/%s_CNA.pdf" % base), ("loh", "/%s_LOH.pdf" % base)] if os.path.exists(solution["path"] + ext)]) out["subclones"] = "%s.segs.txt" % solution["path"] out["hetsummary"] = solution_file out["vrn_file"] = to_vcf(out["subclones"], "TitanCNA", _get_header, _seg_to_vcf, data) out["lohsummary"] = loh.summary_status(out, data) return out
python
def _finalize_sv(solution_file, data): out = {"variantcaller": "titancna"} with open(solution_file) as in_handle: solution = dict(zip(in_handle.readline().strip("\r\n").split("\t"), in_handle.readline().strip("\r\n").split("\t"))) if solution.get("path"): out["purity"] = solution["purity"] out["ploidy"] = solution["ploidy"] out["cellular_prevalence"] = [x.strip() for x in solution["cellPrev"].split(",")] base = os.path.basename(solution["path"]) out["plot"] = dict([(n, solution["path"] + ext) for (n, ext) in [("rplots", ".Rplots.pdf"), ("cf", "/%s_CF.pdf" % base), ("cna", "/%s_CNA.pdf" % base), ("loh", "/%s_LOH.pdf" % base)] if os.path.exists(solution["path"] + ext)]) out["subclones"] = "%s.segs.txt" % solution["path"] out["hetsummary"] = solution_file out["vrn_file"] = to_vcf(out["subclones"], "TitanCNA", _get_header, _seg_to_vcf, data) out["lohsummary"] = loh.summary_status(out, data) return out
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Add output files from TitanCNA calling optional solution.
[ "Add", "output", "files", "from", "TitanCNA", "calling", "optional", "solution", "." ]
6a9348c0054ccd5baffd22f1bb7d0422f6978b20
https://github.com/bcbio/bcbio-nextgen/blob/6a9348c0054ccd5baffd22f1bb7d0422f6978b20/bcbio/structural/titancna.py#L52-L73
237,268
bcbio/bcbio-nextgen
bcbio/structural/titancna.py
_should_run
def _should_run(het_file): """Check for enough input data to proceed with analysis. """ has_hets = False with open(het_file) as in_handle: for i, line in enumerate(in_handle): if i > 1: has_hets = True break return has_hets
python
def _should_run(het_file): has_hets = False with open(het_file) as in_handle: for i, line in enumerate(in_handle): if i > 1: has_hets = True break return has_hets
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Check for enough input data to proceed with analysis.
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6a9348c0054ccd5baffd22f1bb7d0422f6978b20
https://github.com/bcbio/bcbio-nextgen/blob/6a9348c0054ccd5baffd22f1bb7d0422f6978b20/bcbio/structural/titancna.py#L75-L84
237,269
bcbio/bcbio-nextgen
bcbio/structural/titancna.py
_titan_cn_file
def _titan_cn_file(cnr_file, work_dir, data): """Convert CNVkit or GATK4 normalized input into TitanCNA ready format. """ out_file = os.path.join(work_dir, "%s.cn" % (utils.splitext_plus(os.path.basename(cnr_file))[0])) support_cols = {"cnvkit": ["chromosome", "start", "end", "log2"], "gatk-cnv": ["CONTIG", "START", "END", "LOG2_COPY_RATIO"]} cols = support_cols[cnvkit.bin_approach(data)] if not utils.file_uptodate(out_file, cnr_file): with file_transaction(data, out_file) as tx_out_file: iterator = pd.read_table(cnr_file, sep="\t", iterator=True, header=0, comment="@") with open(tx_out_file, "w") as handle: for chunk in iterator: chunk = chunk[cols] chunk.columns = ["chrom", "start", "end", "logR"] if cnvkit.bin_approach(data) == "cnvkit": chunk['start'] += 1 chunk.to_csv(handle, mode="a", sep="\t", index=False) return out_file
python
def _titan_cn_file(cnr_file, work_dir, data): out_file = os.path.join(work_dir, "%s.cn" % (utils.splitext_plus(os.path.basename(cnr_file))[0])) support_cols = {"cnvkit": ["chromosome", "start", "end", "log2"], "gatk-cnv": ["CONTIG", "START", "END", "LOG2_COPY_RATIO"]} cols = support_cols[cnvkit.bin_approach(data)] if not utils.file_uptodate(out_file, cnr_file): with file_transaction(data, out_file) as tx_out_file: iterator = pd.read_table(cnr_file, sep="\t", iterator=True, header=0, comment="@") with open(tx_out_file, "w") as handle: for chunk in iterator: chunk = chunk[cols] chunk.columns = ["chrom", "start", "end", "logR"] if cnvkit.bin_approach(data) == "cnvkit": chunk['start'] += 1 chunk.to_csv(handle, mode="a", sep="\t", index=False) return out_file
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Convert CNVkit or GATK4 normalized input into TitanCNA ready format.
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6a9348c0054ccd5baffd22f1bb7d0422f6978b20
https://github.com/bcbio/bcbio-nextgen/blob/6a9348c0054ccd5baffd22f1bb7d0422f6978b20/bcbio/structural/titancna.py#L164-L181
237,270
bcbio/bcbio-nextgen
bcbio/structural/titancna.py
to_vcf
def to_vcf(in_file, caller, header_fn, vcf_fn, data, sep="\t"): """Convert output TitanCNA segs file into bgzipped VCF. """ out_file = "%s.vcf" % utils.splitext_plus(in_file)[0] if not utils.file_exists(out_file + ".gz") and not utils.file_exists(out_file): with file_transaction(data, out_file) as tx_out_file: with open(in_file) as in_handle: with open(tx_out_file, "w") as out_handle: out_handle.write(_vcf_header.format(caller=caller)) out_handle.write("\t".join(["#CHROM", "POS", "ID", "REF", "ALT", "QUAL", "FILTER", "INFO", "FORMAT", dd.get_sample_name(data)]) + "\n") header, in_handle = header_fn(in_handle) for line in in_handle: out = vcf_fn(dict(zip(header, line.strip().split(sep)))) if out: out_handle.write("\t".join(out) + "\n") out_file = vcfutils.bgzip_and_index(out_file, data["config"]) effects_vcf, _ = effects.add_to_vcf(out_file, data, "snpeff") return effects_vcf or out_file
python
def to_vcf(in_file, caller, header_fn, vcf_fn, data, sep="\t"): out_file = "%s.vcf" % utils.splitext_plus(in_file)[0] if not utils.file_exists(out_file + ".gz") and not utils.file_exists(out_file): with file_transaction(data, out_file) as tx_out_file: with open(in_file) as in_handle: with open(tx_out_file, "w") as out_handle: out_handle.write(_vcf_header.format(caller=caller)) out_handle.write("\t".join(["#CHROM", "POS", "ID", "REF", "ALT", "QUAL", "FILTER", "INFO", "FORMAT", dd.get_sample_name(data)]) + "\n") header, in_handle = header_fn(in_handle) for line in in_handle: out = vcf_fn(dict(zip(header, line.strip().split(sep)))) if out: out_handle.write("\t".join(out) + "\n") out_file = vcfutils.bgzip_and_index(out_file, data["config"]) effects_vcf, _ = effects.add_to_vcf(out_file, data, "snpeff") return effects_vcf or out_file
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Convert output TitanCNA segs file into bgzipped VCF.
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6a9348c0054ccd5baffd22f1bb7d0422f6978b20
https://github.com/bcbio/bcbio-nextgen/blob/6a9348c0054ccd5baffd22f1bb7d0422f6978b20/bcbio/structural/titancna.py#L214-L232
237,271
bcbio/bcbio-nextgen
bcbio/structural/metasv.py
run
def run(items): """Run MetaSV if we have enough supported callers, adding output to the set of calls. """ assert len(items) == 1, "Expect one input to MetaSV ensemble calling" data = items[0] work_dir = _sv_workdir(data) out_file = os.path.join(work_dir, "variants.vcf.gz") cmd = _get_cmd() + ["--sample", dd.get_sample_name(data), "--reference", dd.get_ref_file(data), "--bam", dd.get_align_bam(data), "--outdir", work_dir] methods = [] for call in data.get("sv", []): vcf_file = call.get("vcf_file", call.get("vrn_file", None)) if call["variantcaller"] in SUPPORTED and call["variantcaller"] not in methods and vcf_file is not None: methods.append(call["variantcaller"]) cmd += ["--%s_vcf" % call["variantcaller"], vcf_file] if len(methods) >= MIN_CALLERS: if not utils.file_exists(out_file): tx_work_dir = utils.safe_makedir(os.path.join(work_dir, "raw")) ins_stats = shared.calc_paired_insert_stats_save(dd.get_align_bam(data), os.path.join(tx_work_dir, "insert-stats.yaml")) cmd += ["--workdir", tx_work_dir, "--num_threads", str(dd.get_num_cores(data))] cmd += ["--spades", utils.which("spades.py"), "--age", utils.which("age_align")] cmd += ["--assembly_max_tools=1", "--assembly_pad=500"] cmd += ["--boost_sc", "--isize_mean", ins_stats["mean"], "--isize_sd", ins_stats["std"]] do.run(cmd, "Combine variant calls with MetaSV") filters = ("(NUM_SVTOOLS = 1 && ABS(SVLEN)>50000) || " "(NUM_SVTOOLS = 1 && ABS(SVLEN)<4000 && BA_FLANK_PERCENT>80) || " "(NUM_SVTOOLS = 1 && ABS(SVLEN)<4000 && BA_NUM_GOOD_REC=0) || " "(ABS(SVLEN)<4000 && BA_NUM_GOOD_REC>2)") filter_file = vfilter.cutoff_w_expression(out_file, filters, data, name="ReassemblyStats", limit_regions=None) effects_vcf, _ = effects.add_to_vcf(filter_file, data, "snpeff") data["sv"].append({"variantcaller": "metasv", "vrn_file": effects_vcf or filter_file}) return [data]
python
def run(items): assert len(items) == 1, "Expect one input to MetaSV ensemble calling" data = items[0] work_dir = _sv_workdir(data) out_file = os.path.join(work_dir, "variants.vcf.gz") cmd = _get_cmd() + ["--sample", dd.get_sample_name(data), "--reference", dd.get_ref_file(data), "--bam", dd.get_align_bam(data), "--outdir", work_dir] methods = [] for call in data.get("sv", []): vcf_file = call.get("vcf_file", call.get("vrn_file", None)) if call["variantcaller"] in SUPPORTED and call["variantcaller"] not in methods and vcf_file is not None: methods.append(call["variantcaller"]) cmd += ["--%s_vcf" % call["variantcaller"], vcf_file] if len(methods) >= MIN_CALLERS: if not utils.file_exists(out_file): tx_work_dir = utils.safe_makedir(os.path.join(work_dir, "raw")) ins_stats = shared.calc_paired_insert_stats_save(dd.get_align_bam(data), os.path.join(tx_work_dir, "insert-stats.yaml")) cmd += ["--workdir", tx_work_dir, "--num_threads", str(dd.get_num_cores(data))] cmd += ["--spades", utils.which("spades.py"), "--age", utils.which("age_align")] cmd += ["--assembly_max_tools=1", "--assembly_pad=500"] cmd += ["--boost_sc", "--isize_mean", ins_stats["mean"], "--isize_sd", ins_stats["std"]] do.run(cmd, "Combine variant calls with MetaSV") filters = ("(NUM_SVTOOLS = 1 && ABS(SVLEN)>50000) || " "(NUM_SVTOOLS = 1 && ABS(SVLEN)<4000 && BA_FLANK_PERCENT>80) || " "(NUM_SVTOOLS = 1 && ABS(SVLEN)<4000 && BA_NUM_GOOD_REC=0) || " "(ABS(SVLEN)<4000 && BA_NUM_GOOD_REC>2)") filter_file = vfilter.cutoff_w_expression(out_file, filters, data, name="ReassemblyStats", limit_regions=None) effects_vcf, _ = effects.add_to_vcf(filter_file, data, "snpeff") data["sv"].append({"variantcaller": "metasv", "vrn_file": effects_vcf or filter_file}) return [data]
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Run MetaSV if we have enough supported callers, adding output to the set of calls.
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6a9348c0054ccd5baffd22f1bb7d0422f6978b20
https://github.com/bcbio/bcbio-nextgen/blob/6a9348c0054ccd5baffd22f1bb7d0422f6978b20/bcbio/structural/metasv.py#L18-L52
237,272
bcbio/bcbio-nextgen
bcbio/rnaseq/count.py
combine_count_files
def combine_count_files(files, out_file=None, ext=".fpkm"): """ combine a set of count files into a single combined file """ files = list(files) if not files: return None assert all([file_exists(x) for x in files]), \ "Some count files in %s do not exist." % files for f in files: assert file_exists(f), "%s does not exist or is empty." % f col_names = [os.path.basename(x.replace(ext, "")) for x in files] if not out_file: out_dir = os.path.join(os.path.dirname(files[0])) out_file = os.path.join(out_dir, "combined.counts") if file_exists(out_file): return out_file logger.info("Combining count files into %s." % out_file) row_names = [] col_vals = defaultdict(list) for i, f in enumerate(files): vals = [] if i == 0: with open(f) as in_handle: for line in in_handle: rname, val = line.strip().split("\t") row_names.append(rname) vals.append(val) else: with open(f) as in_handle: for line in in_handle: _, val = line.strip().split("\t") vals.append(val) col_vals[col_names[i]] = vals df = pd.DataFrame(col_vals, index=row_names) df.to_csv(out_file, sep="\t", index_label="id") return out_file
python
def combine_count_files(files, out_file=None, ext=".fpkm"): files = list(files) if not files: return None assert all([file_exists(x) for x in files]), \ "Some count files in %s do not exist." % files for f in files: assert file_exists(f), "%s does not exist or is empty." % f col_names = [os.path.basename(x.replace(ext, "")) for x in files] if not out_file: out_dir = os.path.join(os.path.dirname(files[0])) out_file = os.path.join(out_dir, "combined.counts") if file_exists(out_file): return out_file logger.info("Combining count files into %s." % out_file) row_names = [] col_vals = defaultdict(list) for i, f in enumerate(files): vals = [] if i == 0: with open(f) as in_handle: for line in in_handle: rname, val = line.strip().split("\t") row_names.append(rname) vals.append(val) else: with open(f) as in_handle: for line in in_handle: _, val = line.strip().split("\t") vals.append(val) col_vals[col_names[i]] = vals df = pd.DataFrame(col_vals, index=row_names) df.to_csv(out_file, sep="\t", index_label="id") return out_file
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combine a set of count files into a single combined file
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6a9348c0054ccd5baffd22f1bb7d0422f6978b20
https://github.com/bcbio/bcbio-nextgen/blob/6a9348c0054ccd5baffd22f1bb7d0422f6978b20/bcbio/rnaseq/count.py#L13-L51
237,273
bcbio/bcbio-nextgen
scripts/utils/cwltool2nextflow.py
nf_step_to_process
def nf_step_to_process(step, out_handle): """Convert CWL step into a nextflow process. """ pprint.pprint(step) directives = [] for req in step["task_definition"]["requirements"]: if req["requirement_type"] == "docker": directives.append("container '%s'" % req["value"]) elif req["requirement_type"] == "cpu": directives.append("cpus %s" % req["value"]) elif req["requirement_type"] == "memory": directives.append("memory '%s'" % req["value"]) task_id = step["task_id"] directives = "\n ".join(directives) inputs = "\n ".join(nf_io_to_process(step["inputs"], step["task_definition"]["inputs"], step["scatter"])) outputs = "\n ".join(nf_io_to_process(step["outputs"], step["task_definition"]["outputs"])) commandline = (step["task_definition"]["baseCommand"] + " " + " ".join([nf_input_to_cl(i) for i in step["task_definition"]["inputs"]])) out_handle.write(_nf_process_tmpl.format(**locals()))
python
def nf_step_to_process(step, out_handle): pprint.pprint(step) directives = [] for req in step["task_definition"]["requirements"]: if req["requirement_type"] == "docker": directives.append("container '%s'" % req["value"]) elif req["requirement_type"] == "cpu": directives.append("cpus %s" % req["value"]) elif req["requirement_type"] == "memory": directives.append("memory '%s'" % req["value"]) task_id = step["task_id"] directives = "\n ".join(directives) inputs = "\n ".join(nf_io_to_process(step["inputs"], step["task_definition"]["inputs"], step["scatter"])) outputs = "\n ".join(nf_io_to_process(step["outputs"], step["task_definition"]["outputs"])) commandline = (step["task_definition"]["baseCommand"] + " " + " ".join([nf_input_to_cl(i) for i in step["task_definition"]["inputs"]])) out_handle.write(_nf_process_tmpl.format(**locals()))
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Convert CWL step into a nextflow process.
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6a9348c0054ccd5baffd22f1bb7d0422f6978b20
https://github.com/bcbio/bcbio-nextgen/blob/6a9348c0054ccd5baffd22f1bb7d0422f6978b20/scripts/utils/cwltool2nextflow.py#L53-L74
237,274
bcbio/bcbio-nextgen
scripts/utils/cwltool2nextflow.py
nf_input_to_cl
def nf_input_to_cl(inp): """Convert an input description into command line argument. """ sep = " " if inp.get("separate") else "" val = "'%s'" % inp.get("default") if inp.get("default") else "$%s" % inp["name"] return "%s%s%s" % (inp["prefix"], sep, val)
python
def nf_input_to_cl(inp): sep = " " if inp.get("separate") else "" val = "'%s'" % inp.get("default") if inp.get("default") else "$%s" % inp["name"] return "%s%s%s" % (inp["prefix"], sep, val)
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Convert an input description into command line argument.
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6a9348c0054ccd5baffd22f1bb7d0422f6978b20
https://github.com/bcbio/bcbio-nextgen/blob/6a9348c0054ccd5baffd22f1bb7d0422f6978b20/scripts/utils/cwltool2nextflow.py#L107-L112
237,275
bcbio/bcbio-nextgen
scripts/utils/cwltool2nextflow.py
_wf_to_dict
def _wf_to_dict(wf): """Parse a workflow into cwl2wdl style dictionary. """ inputs, outputs = _get_wf_inout(wf) out = {"name": _id_to_name(wf.tool["id"]).replace("-", "_"), "inputs": inputs, "outputs": outputs, "steps": [], "subworkflows": [], "requirements": []} for step in wf.steps: inputs, outputs = _get_step_inout(step) inputs, scatter = _organize_step_scatter(step, inputs) if isinstance(step.embedded_tool, cwltool.workflow.Workflow): wf_def = _wf_to_dict(step.embedded_tool) out["subworkflows"].append({"id": wf_def["name"], "definition": wf_def, "inputs": inputs, "outputs": outputs, "scatter": scatter}) else: task_def = _tool_to_dict(step.embedded_tool) out["steps"].append({"task_id": task_def["name"], "task_definition": task_def, "inputs": inputs, "outputs": outputs, "scatter": scatter}) return out
python
def _wf_to_dict(wf): inputs, outputs = _get_wf_inout(wf) out = {"name": _id_to_name(wf.tool["id"]).replace("-", "_"), "inputs": inputs, "outputs": outputs, "steps": [], "subworkflows": [], "requirements": []} for step in wf.steps: inputs, outputs = _get_step_inout(step) inputs, scatter = _organize_step_scatter(step, inputs) if isinstance(step.embedded_tool, cwltool.workflow.Workflow): wf_def = _wf_to_dict(step.embedded_tool) out["subworkflows"].append({"id": wf_def["name"], "definition": wf_def, "inputs": inputs, "outputs": outputs, "scatter": scatter}) else: task_def = _tool_to_dict(step.embedded_tool) out["steps"].append({"task_id": task_def["name"], "task_definition": task_def, "inputs": inputs, "outputs": outputs, "scatter": scatter}) return out
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Parse a workflow into cwl2wdl style dictionary.
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6a9348c0054ccd5baffd22f1bb7d0422f6978b20
https://github.com/bcbio/bcbio-nextgen/blob/6a9348c0054ccd5baffd22f1bb7d0422f6978b20/scripts/utils/cwltool2nextflow.py#L116-L134
237,276
bcbio/bcbio-nextgen
bcbio/variation/validate.py
_get_validate
def _get_validate(data): """Retrieve items to validate, from single samples or from combined joint calls. """ if data.get("vrn_file") and tz.get_in(["config", "algorithm", "validate"], data): return utils.deepish_copy(data) elif "group_orig" in data: for sub in multi.get_orig_items(data): if "validate" in sub["config"]["algorithm"]: sub_val = utils.deepish_copy(sub) sub_val["vrn_file"] = data["vrn_file"] return sub_val return None
python
def _get_validate(data): if data.get("vrn_file") and tz.get_in(["config", "algorithm", "validate"], data): return utils.deepish_copy(data) elif "group_orig" in data: for sub in multi.get_orig_items(data): if "validate" in sub["config"]["algorithm"]: sub_val = utils.deepish_copy(sub) sub_val["vrn_file"] = data["vrn_file"] return sub_val return None
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Retrieve items to validate, from single samples or from combined joint calls.
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6a9348c0054ccd5baffd22f1bb7d0422f6978b20
https://github.com/bcbio/bcbio-nextgen/blob/6a9348c0054ccd5baffd22f1bb7d0422f6978b20/bcbio/variation/validate.py#L31-L42
237,277
bcbio/bcbio-nextgen
bcbio/variation/validate.py
normalize_input_path
def normalize_input_path(x, data): """Normalize path for input files, handling relative paths. Looks for non-absolute paths in local and fastq directories """ if x is None: return None elif os.path.isabs(x): return os.path.normpath(x) else: for d in [data["dirs"].get("fastq"), data["dirs"].get("work")]: if d: cur_x = os.path.normpath(os.path.join(d, x)) if os.path.exists(cur_x): return cur_x raise IOError("Could not find validation file %s" % x)
python
def normalize_input_path(x, data): if x is None: return None elif os.path.isabs(x): return os.path.normpath(x) else: for d in [data["dirs"].get("fastq"), data["dirs"].get("work")]: if d: cur_x = os.path.normpath(os.path.join(d, x)) if os.path.exists(cur_x): return cur_x raise IOError("Could not find validation file %s" % x)
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Normalize path for input files, handling relative paths. Looks for non-absolute paths in local and fastq directories
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6a9348c0054ccd5baffd22f1bb7d0422f6978b20
https://github.com/bcbio/bcbio-nextgen/blob/6a9348c0054ccd5baffd22f1bb7d0422f6978b20/bcbio/variation/validate.py#L44-L58
237,278
bcbio/bcbio-nextgen
bcbio/variation/validate.py
_get_caller_supplement
def _get_caller_supplement(caller, data): """Some callers like MuTect incorporate a second caller for indels. """ if caller == "mutect": icaller = tz.get_in(["config", "algorithm", "indelcaller"], data) if icaller: caller = "%s/%s" % (caller, icaller) return caller
python
def _get_caller_supplement(caller, data): if caller == "mutect": icaller = tz.get_in(["config", "algorithm", "indelcaller"], data) if icaller: caller = "%s/%s" % (caller, icaller) return caller
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Some callers like MuTect incorporate a second caller for indels.
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6a9348c0054ccd5baffd22f1bb7d0422f6978b20
https://github.com/bcbio/bcbio-nextgen/blob/6a9348c0054ccd5baffd22f1bb7d0422f6978b20/bcbio/variation/validate.py#L84-L91
237,279
bcbio/bcbio-nextgen
bcbio/variation/validate.py
_pick_lead_item
def _pick_lead_item(items): """Choose lead item for a set of samples. Picks tumors for tumor/normal pairs and first sample for batch groups. """ paired = vcfutils.get_paired(items) if paired: return paired.tumor_data else: return list(items)[0]
python
def _pick_lead_item(items): paired = vcfutils.get_paired(items) if paired: return paired.tumor_data else: return list(items)[0]
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Choose lead item for a set of samples. Picks tumors for tumor/normal pairs and first sample for batch groups.
[ "Choose", "lead", "item", "for", "a", "set", "of", "samples", "." ]
6a9348c0054ccd5baffd22f1bb7d0422f6978b20
https://github.com/bcbio/bcbio-nextgen/blob/6a9348c0054ccd5baffd22f1bb7d0422f6978b20/bcbio/variation/validate.py#L93-L102
237,280
bcbio/bcbio-nextgen
bcbio/variation/validate.py
_normalize_cwl_inputs
def _normalize_cwl_inputs(items): """Extract variation and validation data from CWL input list of batched samples. """ with_validate = {} vrn_files = [] ready_items = [] batch_samples = [] for data in (cwlutils.normalize_missing(utils.to_single_data(d)) for d in items): batch_samples.append(dd.get_sample_name(data)) if tz.get_in(["config", "algorithm", "validate"], data): with_validate[_checksum(tz.get_in(["config", "algorithm", "validate"], data))] = data if data.get("vrn_file"): vrn_files.append(data["vrn_file"]) ready_items.append(data) if len(with_validate) == 0: data = _pick_lead_item(ready_items) data["batch_samples"] = batch_samples return data else: assert len(with_validate) == 1, len(with_validate) assert len(set(vrn_files)) == 1, set(vrn_files) data = _pick_lead_item(with_validate.values()) data["batch_samples"] = batch_samples data["vrn_file"] = vrn_files[0] return data
python
def _normalize_cwl_inputs(items): with_validate = {} vrn_files = [] ready_items = [] batch_samples = [] for data in (cwlutils.normalize_missing(utils.to_single_data(d)) for d in items): batch_samples.append(dd.get_sample_name(data)) if tz.get_in(["config", "algorithm", "validate"], data): with_validate[_checksum(tz.get_in(["config", "algorithm", "validate"], data))] = data if data.get("vrn_file"): vrn_files.append(data["vrn_file"]) ready_items.append(data) if len(with_validate) == 0: data = _pick_lead_item(ready_items) data["batch_samples"] = batch_samples return data else: assert len(with_validate) == 1, len(with_validate) assert len(set(vrn_files)) == 1, set(vrn_files) data = _pick_lead_item(with_validate.values()) data["batch_samples"] = batch_samples data["vrn_file"] = vrn_files[0] return data
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Extract variation and validation data from CWL input list of batched samples.
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6a9348c0054ccd5baffd22f1bb7d0422f6978b20
https://github.com/bcbio/bcbio-nextgen/blob/6a9348c0054ccd5baffd22f1bb7d0422f6978b20/bcbio/variation/validate.py#L104-L128
237,281
bcbio/bcbio-nextgen
bcbio/variation/validate.py
compare_to_rm
def compare_to_rm(data): """Compare final variant calls against reference materials of known calls. """ if isinstance(data, (list, tuple)) and cwlutils.is_cwl_run(utils.to_single_data(data[0])): data = _normalize_cwl_inputs(data) toval_data = _get_validate(data) toval_data = cwlutils.unpack_tarballs(toval_data, toval_data) if toval_data: caller = _get_caller(toval_data) sample = dd.get_sample_name(toval_data) base_dir = utils.safe_makedir(os.path.join(toval_data["dirs"]["work"], "validate", sample, caller)) if isinstance(toval_data["vrn_file"], (list, tuple)): raise NotImplementedError("Multiple input files for validation: %s" % toval_data["vrn_file"]) else: vrn_file = os.path.abspath(toval_data["vrn_file"]) rm_file = normalize_input_path(toval_data["config"]["algorithm"]["validate"], toval_data) rm_interval_file = _gunzip(normalize_input_path(toval_data["config"]["algorithm"].get("validate_regions"), toval_data), toval_data) rm_interval_file = bedutils.clean_file(rm_interval_file, toval_data, prefix="validateregions-", bedprep_dir=utils.safe_makedir(os.path.join(base_dir, "bedprep"))) rm_file = naming.handle_synonyms(rm_file, dd.get_ref_file(toval_data), data.get("genome_build"), base_dir, data) rm_interval_file = (naming.handle_synonyms(rm_interval_file, dd.get_ref_file(toval_data), data.get("genome_build"), base_dir, data) if rm_interval_file else None) vmethod = tz.get_in(["config", "algorithm", "validate_method"], data, "rtg") # RTG can fail on totally empty files. Call everything in truth set as false negatives if not vcfutils.vcf_has_variants(vrn_file): eval_files = _setup_call_false(rm_file, rm_interval_file, base_dir, toval_data, "fn") data["validate"] = _rtg_add_summary_file(eval_files, base_dir, toval_data) # empty validation file, every call is a false positive elif not vcfutils.vcf_has_variants(rm_file): eval_files = _setup_call_fps(vrn_file, rm_interval_file, base_dir, toval_data, "fp") data["validate"] = _rtg_add_summary_file(eval_files, base_dir, toval_data) elif vmethod in ["rtg", "rtg-squash-ploidy"]: eval_files = _run_rtg_eval(vrn_file, rm_file, rm_interval_file, base_dir, toval_data, vmethod) eval_files = _annotate_validations(eval_files, toval_data) data["validate"] = _rtg_add_summary_file(eval_files, base_dir, toval_data) elif vmethod == "hap.py": data["validate"] = _run_happy_eval(vrn_file, rm_file, rm_interval_file, base_dir, toval_data) elif vmethod == "bcbio.variation": data["validate"] = _run_bcbio_variation(vrn_file, rm_file, rm_interval_file, base_dir, sample, caller, toval_data) return [[data]]
python
def compare_to_rm(data): if isinstance(data, (list, tuple)) and cwlutils.is_cwl_run(utils.to_single_data(data[0])): data = _normalize_cwl_inputs(data) toval_data = _get_validate(data) toval_data = cwlutils.unpack_tarballs(toval_data, toval_data) if toval_data: caller = _get_caller(toval_data) sample = dd.get_sample_name(toval_data) base_dir = utils.safe_makedir(os.path.join(toval_data["dirs"]["work"], "validate", sample, caller)) if isinstance(toval_data["vrn_file"], (list, tuple)): raise NotImplementedError("Multiple input files for validation: %s" % toval_data["vrn_file"]) else: vrn_file = os.path.abspath(toval_data["vrn_file"]) rm_file = normalize_input_path(toval_data["config"]["algorithm"]["validate"], toval_data) rm_interval_file = _gunzip(normalize_input_path(toval_data["config"]["algorithm"].get("validate_regions"), toval_data), toval_data) rm_interval_file = bedutils.clean_file(rm_interval_file, toval_data, prefix="validateregions-", bedprep_dir=utils.safe_makedir(os.path.join(base_dir, "bedprep"))) rm_file = naming.handle_synonyms(rm_file, dd.get_ref_file(toval_data), data.get("genome_build"), base_dir, data) rm_interval_file = (naming.handle_synonyms(rm_interval_file, dd.get_ref_file(toval_data), data.get("genome_build"), base_dir, data) if rm_interval_file else None) vmethod = tz.get_in(["config", "algorithm", "validate_method"], data, "rtg") # RTG can fail on totally empty files. Call everything in truth set as false negatives if not vcfutils.vcf_has_variants(vrn_file): eval_files = _setup_call_false(rm_file, rm_interval_file, base_dir, toval_data, "fn") data["validate"] = _rtg_add_summary_file(eval_files, base_dir, toval_data) # empty validation file, every call is a false positive elif not vcfutils.vcf_has_variants(rm_file): eval_files = _setup_call_fps(vrn_file, rm_interval_file, base_dir, toval_data, "fp") data["validate"] = _rtg_add_summary_file(eval_files, base_dir, toval_data) elif vmethod in ["rtg", "rtg-squash-ploidy"]: eval_files = _run_rtg_eval(vrn_file, rm_file, rm_interval_file, base_dir, toval_data, vmethod) eval_files = _annotate_validations(eval_files, toval_data) data["validate"] = _rtg_add_summary_file(eval_files, base_dir, toval_data) elif vmethod == "hap.py": data["validate"] = _run_happy_eval(vrn_file, rm_file, rm_interval_file, base_dir, toval_data) elif vmethod == "bcbio.variation": data["validate"] = _run_bcbio_variation(vrn_file, rm_file, rm_interval_file, base_dir, sample, caller, toval_data) return [[data]]
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Compare final variant calls against reference materials of known calls.
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6a9348c0054ccd5baffd22f1bb7d0422f6978b20
https://github.com/bcbio/bcbio-nextgen/blob/6a9348c0054ccd5baffd22f1bb7d0422f6978b20/bcbio/variation/validate.py#L139-L184
237,282
bcbio/bcbio-nextgen
bcbio/variation/validate.py
_annotate_validations
def _annotate_validations(eval_files, data): """Add annotations about potential problem regions to validation VCFs. """ for key in ["tp", "tp-calls", "fp", "fn"]: if eval_files.get(key): eval_files[key] = annotation.add_genome_context(eval_files[key], data) return eval_files
python
def _annotate_validations(eval_files, data): for key in ["tp", "tp-calls", "fp", "fn"]: if eval_files.get(key): eval_files[key] = annotation.add_genome_context(eval_files[key], data) return eval_files
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Add annotations about potential problem regions to validation VCFs.
[ "Add", "annotations", "about", "potential", "problem", "regions", "to", "validation", "VCFs", "." ]
6a9348c0054ccd5baffd22f1bb7d0422f6978b20
https://github.com/bcbio/bcbio-nextgen/blob/6a9348c0054ccd5baffd22f1bb7d0422f6978b20/bcbio/variation/validate.py#L186-L192
237,283
bcbio/bcbio-nextgen
bcbio/variation/validate.py
_setup_call_false
def _setup_call_false(vrn_file, rm_bed, base_dir, data, call_type): """Create set of false positives or ngatives for inputs with empty truth sets. """ out_file = os.path.join(base_dir, "%s.vcf.gz" % call_type) if not utils.file_exists(out_file): with file_transaction(data, out_file) as tx_out_file: if not vrn_file.endswith(".gz"): vrn_file = vcfutils.bgzip_and_index(vrn_file, out_dir=os.path.dirname(tx_out_file)) cmd = ("bcftools view -R {rm_bed} -f 'PASS,.' {vrn_file} -O z -o {tx_out_file}") do.run(cmd.format(**locals()), "Prepare %s with empty reference" % call_type, data) return {call_type: out_file}
python
def _setup_call_false(vrn_file, rm_bed, base_dir, data, call_type): out_file = os.path.join(base_dir, "%s.vcf.gz" % call_type) if not utils.file_exists(out_file): with file_transaction(data, out_file) as tx_out_file: if not vrn_file.endswith(".gz"): vrn_file = vcfutils.bgzip_and_index(vrn_file, out_dir=os.path.dirname(tx_out_file)) cmd = ("bcftools view -R {rm_bed} -f 'PASS,.' {vrn_file} -O z -o {tx_out_file}") do.run(cmd.format(**locals()), "Prepare %s with empty reference" % call_type, data) return {call_type: out_file}
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Create set of false positives or ngatives for inputs with empty truth sets.
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6a9348c0054ccd5baffd22f1bb7d0422f6978b20
https://github.com/bcbio/bcbio-nextgen/blob/6a9348c0054ccd5baffd22f1bb7d0422f6978b20/bcbio/variation/validate.py#L196-L206
237,284
bcbio/bcbio-nextgen
bcbio/variation/validate.py
_rtg_add_summary_file
def _rtg_add_summary_file(eval_files, base_dir, data): """Parse output TP FP and FN files to generate metrics for plotting. """ out_file = os.path.join(base_dir, "validate-summary.csv") if not utils.file_uptodate(out_file, eval_files.get("tp", eval_files.get("fp", eval_files["fn"]))): with file_transaction(data, out_file) as tx_out_file: with open(tx_out_file, "w") as out_handle: writer = csv.writer(out_handle) writer.writerow(["sample", "caller", "vtype", "metric", "value"]) base = _get_sample_and_caller(data) for metric in ["tp", "fp", "fn"]: for vtype, bcftools_types in [("SNPs", "--types snps"), ("Indels", "--exclude-types snps")]: in_file = eval_files.get(metric) if in_file and os.path.exists(in_file): cmd = ("bcftools view {bcftools_types} {in_file} | grep -v ^# | wc -l") count = int(subprocess.check_output(cmd.format(**locals()), shell=True)) else: count = 0 writer.writerow(base + [vtype, metric, count]) eval_files["summary"] = out_file return eval_files
python
def _rtg_add_summary_file(eval_files, base_dir, data): out_file = os.path.join(base_dir, "validate-summary.csv") if not utils.file_uptodate(out_file, eval_files.get("tp", eval_files.get("fp", eval_files["fn"]))): with file_transaction(data, out_file) as tx_out_file: with open(tx_out_file, "w") as out_handle: writer = csv.writer(out_handle) writer.writerow(["sample", "caller", "vtype", "metric", "value"]) base = _get_sample_and_caller(data) for metric in ["tp", "fp", "fn"]: for vtype, bcftools_types in [("SNPs", "--types snps"), ("Indels", "--exclude-types snps")]: in_file = eval_files.get(metric) if in_file and os.path.exists(in_file): cmd = ("bcftools view {bcftools_types} {in_file} | grep -v ^# | wc -l") count = int(subprocess.check_output(cmd.format(**locals()), shell=True)) else: count = 0 writer.writerow(base + [vtype, metric, count]) eval_files["summary"] = out_file return eval_files
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Parse output TP FP and FN files to generate metrics for plotting.
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6a9348c0054ccd5baffd22f1bb7d0422f6978b20
https://github.com/bcbio/bcbio-nextgen/blob/6a9348c0054ccd5baffd22f1bb7d0422f6978b20/bcbio/variation/validate.py#L214-L235
237,285
bcbio/bcbio-nextgen
bcbio/variation/validate.py
_prepare_inputs
def _prepare_inputs(vrn_file, rm_file, rm_interval_file, base_dir, data): """Prepare input VCF and BED files for validation. """ if not rm_file.endswith(".vcf.gz") or not os.path.exists(rm_file + ".tbi"): rm_file = vcfutils.bgzip_and_index(rm_file, data["config"], out_dir=base_dir) if len(vcfutils.get_samples(vrn_file)) > 1: base = utils.splitext_plus(os.path.basename(vrn_file))[0] sample_file = os.path.join(base_dir, "%s-%s.vcf.gz" % (base, dd.get_sample_name(data))) vrn_file = vcfutils.select_sample(vrn_file, dd.get_sample_name(data), sample_file, data["config"]) # rtg fails on bgzipped VCFs produced by GatherVcfs so we re-prep them else: vrn_file = vcfutils.bgzip_and_index(vrn_file, data["config"], out_dir=base_dir) interval_bed = _get_merged_intervals(rm_interval_file, vrn_file, base_dir, data) return vrn_file, rm_file, interval_bed
python
def _prepare_inputs(vrn_file, rm_file, rm_interval_file, base_dir, data): if not rm_file.endswith(".vcf.gz") or not os.path.exists(rm_file + ".tbi"): rm_file = vcfutils.bgzip_and_index(rm_file, data["config"], out_dir=base_dir) if len(vcfutils.get_samples(vrn_file)) > 1: base = utils.splitext_plus(os.path.basename(vrn_file))[0] sample_file = os.path.join(base_dir, "%s-%s.vcf.gz" % (base, dd.get_sample_name(data))) vrn_file = vcfutils.select_sample(vrn_file, dd.get_sample_name(data), sample_file, data["config"]) # rtg fails on bgzipped VCFs produced by GatherVcfs so we re-prep them else: vrn_file = vcfutils.bgzip_and_index(vrn_file, data["config"], out_dir=base_dir) interval_bed = _get_merged_intervals(rm_interval_file, vrn_file, base_dir, data) return vrn_file, rm_file, interval_bed
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Prepare input VCF and BED files for validation.
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6a9348c0054ccd5baffd22f1bb7d0422f6978b20
https://github.com/bcbio/bcbio-nextgen/blob/6a9348c0054ccd5baffd22f1bb7d0422f6978b20/bcbio/variation/validate.py#L237-L251
237,286
bcbio/bcbio-nextgen
bcbio/variation/validate.py
_pick_best_quality_score
def _pick_best_quality_score(vrn_file): """Flexible quality score selection, picking the best available. Implementation based on discussion: https://github.com/bcbio/bcbio-nextgen/commit/a538cecd86c0000d17d3f9d4f8ac9d2da04f9884#commitcomment-14539249 (RTG=AVR/GATK=VQSLOD/MuTect=t_lod_fstar, otherwise GQ, otherwise QUAL, otherwise DP.) For MuTect, it's not clear how to get t_lod_fstar, the right quality score, into VCF cleanly. MuTect2 has TLOD in the INFO field. """ # pysam fails on checking reference contigs if input is empty if not vcfutils.vcf_has_variants(vrn_file): return "DP" to_check = 25 scores = collections.defaultdict(int) try: in_handle = VariantFile(vrn_file) except ValueError: raise ValueError("Failed to parse input file in preparation for validation: %s" % vrn_file) with contextlib.closing(in_handle) as val_in: for i, rec in enumerate(val_in): if i > to_check: break if "VQSLOD" in rec.info and rec.info.get("VQSLOD") is not None: scores["INFO=VQSLOD"] += 1 if "TLOD" in rec.info and rec.info.get("TLOD") is not None: scores["INFO=TLOD"] += 1 for skey in ["AVR", "GQ", "DP"]: if len(rec.samples) > 0 and rec.samples[0].get(skey) is not None: scores[skey] += 1 if rec.qual: scores["QUAL"] += 1 for key in ["AVR", "INFO=VQSLOD", "INFO=TLOD", "GQ", "QUAL", "DP"]: if scores[key] > 0: return key raise ValueError("Did not find quality score for validation from %s" % vrn_file)
python
def _pick_best_quality_score(vrn_file): # pysam fails on checking reference contigs if input is empty if not vcfutils.vcf_has_variants(vrn_file): return "DP" to_check = 25 scores = collections.defaultdict(int) try: in_handle = VariantFile(vrn_file) except ValueError: raise ValueError("Failed to parse input file in preparation for validation: %s" % vrn_file) with contextlib.closing(in_handle) as val_in: for i, rec in enumerate(val_in): if i > to_check: break if "VQSLOD" in rec.info and rec.info.get("VQSLOD") is not None: scores["INFO=VQSLOD"] += 1 if "TLOD" in rec.info and rec.info.get("TLOD") is not None: scores["INFO=TLOD"] += 1 for skey in ["AVR", "GQ", "DP"]: if len(rec.samples) > 0 and rec.samples[0].get(skey) is not None: scores[skey] += 1 if rec.qual: scores["QUAL"] += 1 for key in ["AVR", "INFO=VQSLOD", "INFO=TLOD", "GQ", "QUAL", "DP"]: if scores[key] > 0: return key raise ValueError("Did not find quality score for validation from %s" % vrn_file)
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Flexible quality score selection, picking the best available. Implementation based on discussion: https://github.com/bcbio/bcbio-nextgen/commit/a538cecd86c0000d17d3f9d4f8ac9d2da04f9884#commitcomment-14539249 (RTG=AVR/GATK=VQSLOD/MuTect=t_lod_fstar, otherwise GQ, otherwise QUAL, otherwise DP.) For MuTect, it's not clear how to get t_lod_fstar, the right quality score, into VCF cleanly. MuTect2 has TLOD in the INFO field.
[ "Flexible", "quality", "score", "selection", "picking", "the", "best", "available", "." ]
6a9348c0054ccd5baffd22f1bb7d0422f6978b20
https://github.com/bcbio/bcbio-nextgen/blob/6a9348c0054ccd5baffd22f1bb7d0422f6978b20/bcbio/variation/validate.py#L305-L342
237,287
bcbio/bcbio-nextgen
bcbio/variation/validate.py
_get_merged_intervals
def _get_merged_intervals(rm_interval_file, vrn_file, base_dir, data): """Retrieve intervals to run validation on, merging reference and callable BED files. """ a_intervals = get_analysis_intervals(data, vrn_file, base_dir) if a_intervals: final_intervals = shared.remove_lcr_regions(a_intervals, [data]) if rm_interval_file: caller = _get_caller(data) sample = dd.get_sample_name(data) combo_intervals = os.path.join(base_dir, "%s-%s-%s-wrm.bed" % (utils.splitext_plus(os.path.basename(final_intervals))[0], sample, caller)) if not utils.file_uptodate(combo_intervals, final_intervals): with file_transaction(data, combo_intervals) as tx_out_file: with utils.chdir(os.path.dirname(tx_out_file)): # Copy files locally to avoid issues on shared filesystems # where BEDtools has trouble accessing the same base # files from multiple locations a = os.path.basename(final_intervals) b = os.path.basename(rm_interval_file) try: shutil.copyfile(final_intervals, a) except IOError: time.sleep(60) shutil.copyfile(final_intervals, a) try: shutil.copyfile(rm_interval_file, b) except IOError: time.sleep(60) shutil.copyfile(rm_interval_file, b) cmd = ("bedtools intersect -nonamecheck -a {a} -b {b} > {tx_out_file}") do.run(cmd.format(**locals()), "Intersect callable intervals for rtg vcfeval") final_intervals = combo_intervals else: assert rm_interval_file, "No intervals to subset analysis with for %s" % vrn_file final_intervals = shared.remove_lcr_regions(rm_interval_file, [data]) return final_intervals
python
def _get_merged_intervals(rm_interval_file, vrn_file, base_dir, data): a_intervals = get_analysis_intervals(data, vrn_file, base_dir) if a_intervals: final_intervals = shared.remove_lcr_regions(a_intervals, [data]) if rm_interval_file: caller = _get_caller(data) sample = dd.get_sample_name(data) combo_intervals = os.path.join(base_dir, "%s-%s-%s-wrm.bed" % (utils.splitext_plus(os.path.basename(final_intervals))[0], sample, caller)) if not utils.file_uptodate(combo_intervals, final_intervals): with file_transaction(data, combo_intervals) as tx_out_file: with utils.chdir(os.path.dirname(tx_out_file)): # Copy files locally to avoid issues on shared filesystems # where BEDtools has trouble accessing the same base # files from multiple locations a = os.path.basename(final_intervals) b = os.path.basename(rm_interval_file) try: shutil.copyfile(final_intervals, a) except IOError: time.sleep(60) shutil.copyfile(final_intervals, a) try: shutil.copyfile(rm_interval_file, b) except IOError: time.sleep(60) shutil.copyfile(rm_interval_file, b) cmd = ("bedtools intersect -nonamecheck -a {a} -b {b} > {tx_out_file}") do.run(cmd.format(**locals()), "Intersect callable intervals for rtg vcfeval") final_intervals = combo_intervals else: assert rm_interval_file, "No intervals to subset analysis with for %s" % vrn_file final_intervals = shared.remove_lcr_regions(rm_interval_file, [data]) return final_intervals
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Retrieve intervals to run validation on, merging reference and callable BED files.
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6a9348c0054ccd5baffd22f1bb7d0422f6978b20
https://github.com/bcbio/bcbio-nextgen/blob/6a9348c0054ccd5baffd22f1bb7d0422f6978b20/bcbio/variation/validate.py#L344-L380
237,288
bcbio/bcbio-nextgen
bcbio/variation/validate.py
_callable_from_gvcf
def _callable_from_gvcf(data, vrn_file, out_dir): """Retrieve callable regions based on ref call regions in gVCF. Uses https://github.com/lijiayong/gvcf_regions """ methods = {"freebayes": "freebayes", "platypus": "platypus", "gatk-haplotype": "gatk"} gvcf_type = methods.get(dd.get_variantcaller(data)) if gvcf_type: out_file = os.path.join(out_dir, "%s-gcvf-coverage.bed" % utils.splitext_plus(os.path.basename(vrn_file))[0]) if not utils.file_uptodate(out_file, vrn_file): with file_transaction(data, out_file) as tx_out_file: cmd = ("gvcf_regions.py --gvcf_type {gvcf_type} {vrn_file} " "| bedtools merge > {tx_out_file}") do.run(cmd.format(**locals()), "Convert gVCF to BED file of callable regions") return out_file
python
def _callable_from_gvcf(data, vrn_file, out_dir): methods = {"freebayes": "freebayes", "platypus": "platypus", "gatk-haplotype": "gatk"} gvcf_type = methods.get(dd.get_variantcaller(data)) if gvcf_type: out_file = os.path.join(out_dir, "%s-gcvf-coverage.bed" % utils.splitext_plus(os.path.basename(vrn_file))[0]) if not utils.file_uptodate(out_file, vrn_file): with file_transaction(data, out_file) as tx_out_file: cmd = ("gvcf_regions.py --gvcf_type {gvcf_type} {vrn_file} " "| bedtools merge > {tx_out_file}") do.run(cmd.format(**locals()), "Convert gVCF to BED file of callable regions") return out_file
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Retrieve callable regions based on ref call regions in gVCF. Uses https://github.com/lijiayong/gvcf_regions
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6a9348c0054ccd5baffd22f1bb7d0422f6978b20
https://github.com/bcbio/bcbio-nextgen/blob/6a9348c0054ccd5baffd22f1bb7d0422f6978b20/bcbio/variation/validate.py#L382-L398
237,289
bcbio/bcbio-nextgen
bcbio/variation/validate.py
get_analysis_intervals
def get_analysis_intervals(data, vrn_file, base_dir): """Retrieve analysis regions for the current variant calling pipeline. """ from bcbio.bam import callable if vrn_file and vcfutils.is_gvcf_file(vrn_file): callable_bed = _callable_from_gvcf(data, vrn_file, base_dir) if callable_bed: return callable_bed if data.get("ensemble_bed"): return data["ensemble_bed"] elif dd.get_sample_callable(data): return dd.get_sample_callable(data) elif data.get("align_bam"): return callable.sample_callable_bed(data["align_bam"], dd.get_ref_file(data), data)[0] elif data.get("work_bam"): return callable.sample_callable_bed(data["work_bam"], dd.get_ref_file(data), data)[0] elif data.get("work_bam_callable"): data = utils.deepish_copy(data) data["work_bam"] = data.pop("work_bam_callable") return callable.sample_callable_bed(data["work_bam"], dd.get_ref_file(data), data)[0] elif tz.get_in(["config", "algorithm", "callable_regions"], data): return tz.get_in(["config", "algorithm", "callable_regions"], data) elif tz.get_in(["config", "algorithm", "variant_regions"], data): return tz.get_in(["config", "algorithm", "variant_regions"], data)
python
def get_analysis_intervals(data, vrn_file, base_dir): from bcbio.bam import callable if vrn_file and vcfutils.is_gvcf_file(vrn_file): callable_bed = _callable_from_gvcf(data, vrn_file, base_dir) if callable_bed: return callable_bed if data.get("ensemble_bed"): return data["ensemble_bed"] elif dd.get_sample_callable(data): return dd.get_sample_callable(data) elif data.get("align_bam"): return callable.sample_callable_bed(data["align_bam"], dd.get_ref_file(data), data)[0] elif data.get("work_bam"): return callable.sample_callable_bed(data["work_bam"], dd.get_ref_file(data), data)[0] elif data.get("work_bam_callable"): data = utils.deepish_copy(data) data["work_bam"] = data.pop("work_bam_callable") return callable.sample_callable_bed(data["work_bam"], dd.get_ref_file(data), data)[0] elif tz.get_in(["config", "algorithm", "callable_regions"], data): return tz.get_in(["config", "algorithm", "callable_regions"], data) elif tz.get_in(["config", "algorithm", "variant_regions"], data): return tz.get_in(["config", "algorithm", "variant_regions"], data)
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Retrieve analysis regions for the current variant calling pipeline.
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6a9348c0054ccd5baffd22f1bb7d0422f6978b20
https://github.com/bcbio/bcbio-nextgen/blob/6a9348c0054ccd5baffd22f1bb7d0422f6978b20/bcbio/variation/validate.py#L400-L424
237,290
bcbio/bcbio-nextgen
bcbio/variation/validate.py
_get_location_list
def _get_location_list(interval_bed): """Retrieve list of locations to analyze from input BED file. """ import pybedtools regions = collections.OrderedDict() for region in pybedtools.BedTool(interval_bed): regions[str(region.chrom)] = None return regions.keys()
python
def _get_location_list(interval_bed): import pybedtools regions = collections.OrderedDict() for region in pybedtools.BedTool(interval_bed): regions[str(region.chrom)] = None return regions.keys()
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Retrieve list of locations to analyze from input BED file.
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6a9348c0054ccd5baffd22f1bb7d0422f6978b20
https://github.com/bcbio/bcbio-nextgen/blob/6a9348c0054ccd5baffd22f1bb7d0422f6978b20/bcbio/variation/validate.py#L443-L450
237,291
bcbio/bcbio-nextgen
bcbio/variation/validate.py
_run_bcbio_variation
def _run_bcbio_variation(vrn_file, rm_file, rm_interval_file, base_dir, sample, caller, data): """Run validation of a caller against the truth set using bcbio.variation. """ val_config_file = _create_validate_config_file(vrn_file, rm_file, rm_interval_file, base_dir, data) work_dir = os.path.join(base_dir, "work") out = {"summary": os.path.join(work_dir, "validate-summary.csv"), "grading": os.path.join(work_dir, "validate-grading.yaml"), "discordant": os.path.join(work_dir, "%s-eval-ref-discordance-annotate.vcf" % sample)} if not utils.file_exists(out["discordant"]) or not utils.file_exists(out["grading"]): bcbio_variation_comparison(val_config_file, base_dir, data) out["concordant"] = filter(os.path.exists, [os.path.join(work_dir, "%s-%s-concordance.vcf" % (sample, x)) for x in ["eval-ref", "ref-eval"]])[0] return out
python
def _run_bcbio_variation(vrn_file, rm_file, rm_interval_file, base_dir, sample, caller, data): val_config_file = _create_validate_config_file(vrn_file, rm_file, rm_interval_file, base_dir, data) work_dir = os.path.join(base_dir, "work") out = {"summary": os.path.join(work_dir, "validate-summary.csv"), "grading": os.path.join(work_dir, "validate-grading.yaml"), "discordant": os.path.join(work_dir, "%s-eval-ref-discordance-annotate.vcf" % sample)} if not utils.file_exists(out["discordant"]) or not utils.file_exists(out["grading"]): bcbio_variation_comparison(val_config_file, base_dir, data) out["concordant"] = filter(os.path.exists, [os.path.join(work_dir, "%s-%s-concordance.vcf" % (sample, x)) for x in ["eval-ref", "ref-eval"]])[0] return out
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Run validation of a caller against the truth set using bcbio.variation.
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6a9348c0054ccd5baffd22f1bb7d0422f6978b20
https://github.com/bcbio/bcbio-nextgen/blob/6a9348c0054ccd5baffd22f1bb7d0422f6978b20/bcbio/variation/validate.py#L454-L468
237,292
bcbio/bcbio-nextgen
bcbio/variation/validate.py
_create_validate_config
def _create_validate_config(vrn_file, rm_file, rm_interval_file, base_dir, data): """Create a bcbio.variation configuration input for validation. """ ref_call = {"file": str(rm_file), "name": "ref", "type": "grading-ref", "fix-sample-header": True, "remove-refcalls": True} a_intervals = get_analysis_intervals(data, vrn_file, base_dir) if a_intervals: a_intervals = shared.remove_lcr_regions(a_intervals, [data]) if rm_interval_file: ref_call["intervals"] = rm_interval_file eval_call = {"file": vrn_file, "name": "eval", "remove-refcalls": True} exp = {"sample": data["name"][-1], "ref": dd.get_ref_file(data), "approach": "grade", "calls": [ref_call, eval_call]} if a_intervals: exp["intervals"] = os.path.abspath(a_intervals) if data.get("align_bam"): exp["align"] = data["align_bam"] elif data.get("work_bam"): exp["align"] = data["work_bam"] return {"dir": {"base": base_dir, "out": "work", "prep": "work/prep"}, "experiments": [exp]}
python
def _create_validate_config(vrn_file, rm_file, rm_interval_file, base_dir, data): ref_call = {"file": str(rm_file), "name": "ref", "type": "grading-ref", "fix-sample-header": True, "remove-refcalls": True} a_intervals = get_analysis_intervals(data, vrn_file, base_dir) if a_intervals: a_intervals = shared.remove_lcr_regions(a_intervals, [data]) if rm_interval_file: ref_call["intervals"] = rm_interval_file eval_call = {"file": vrn_file, "name": "eval", "remove-refcalls": True} exp = {"sample": data["name"][-1], "ref": dd.get_ref_file(data), "approach": "grade", "calls": [ref_call, eval_call]} if a_intervals: exp["intervals"] = os.path.abspath(a_intervals) if data.get("align_bam"): exp["align"] = data["align_bam"] elif data.get("work_bam"): exp["align"] = data["work_bam"] return {"dir": {"base": base_dir, "out": "work", "prep": "work/prep"}, "experiments": [exp]}
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Create a bcbio.variation configuration input for validation.
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6a9348c0054ccd5baffd22f1bb7d0422f6978b20
https://github.com/bcbio/bcbio-nextgen/blob/6a9348c0054ccd5baffd22f1bb7d0422f6978b20/bcbio/variation/validate.py#L492-L514
237,293
bcbio/bcbio-nextgen
bcbio/variation/validate.py
summarize_grading
def summarize_grading(samples, vkey="validate"): """Provide summaries of grading results across all samples. Handles both traditional pipelines (validation part of variants) and CWL pipelines (validation at top level) """ samples = list(utils.flatten(samples)) if not _has_grading_info(samples, vkey): return [[d] for d in samples] validate_dir = utils.safe_makedir(os.path.join(samples[0]["dirs"]["work"], vkey)) header = ["sample", "caller", "variant.type", "category", "value"] _summarize_combined(samples, vkey) validated, out = _group_validate_samples(samples, vkey, (["metadata", "validate_batch"], ["metadata", "batch"], ["description"])) for vname, vitems in validated.items(): out_csv = os.path.join(validate_dir, "grading-summary-%s.csv" % vname) with open(out_csv, "w") as out_handle: writer = csv.writer(out_handle) writer.writerow(header) plot_data = [] plot_files = [] for data in sorted(vitems, key=lambda x: x.get("lane", dd.get_sample_name(x)) or ""): validations = [variant.get(vkey) for variant in data.get("variants", []) if isinstance(variant, dict)] validations = [v for v in validations if v] if len(validations) == 0 and vkey in data: validations = [data.get(vkey)] for validate in validations: if validate: validate["grading_summary"] = out_csv if validate.get("grading"): for row in _get_validate_plotdata_yaml(validate["grading"], data): writer.writerow(row) plot_data.append(row) elif validate.get("summary") and not validate.get("summary") == "None": if isinstance(validate["summary"], (list, tuple)): plot_files.extend(list(set(validate["summary"]))) else: plot_files.append(validate["summary"]) if plot_files: plots = validateplot.classifyplot_from_plotfiles(plot_files, out_csv) elif plot_data: plots = validateplot.create(plot_data, header, 0, data["config"], os.path.splitext(out_csv)[0]) else: plots = [] for data in vitems: if data.get(vkey): data[vkey]["grading_plots"] = plots for variant in data.get("variants", []): if isinstance(variant, dict) and variant.get(vkey): variant[vkey]["grading_plots"] = plots out.append([data]) return out
python
def summarize_grading(samples, vkey="validate"): samples = list(utils.flatten(samples)) if not _has_grading_info(samples, vkey): return [[d] for d in samples] validate_dir = utils.safe_makedir(os.path.join(samples[0]["dirs"]["work"], vkey)) header = ["sample", "caller", "variant.type", "category", "value"] _summarize_combined(samples, vkey) validated, out = _group_validate_samples(samples, vkey, (["metadata", "validate_batch"], ["metadata", "batch"], ["description"])) for vname, vitems in validated.items(): out_csv = os.path.join(validate_dir, "grading-summary-%s.csv" % vname) with open(out_csv, "w") as out_handle: writer = csv.writer(out_handle) writer.writerow(header) plot_data = [] plot_files = [] for data in sorted(vitems, key=lambda x: x.get("lane", dd.get_sample_name(x)) or ""): validations = [variant.get(vkey) for variant in data.get("variants", []) if isinstance(variant, dict)] validations = [v for v in validations if v] if len(validations) == 0 and vkey in data: validations = [data.get(vkey)] for validate in validations: if validate: validate["grading_summary"] = out_csv if validate.get("grading"): for row in _get_validate_plotdata_yaml(validate["grading"], data): writer.writerow(row) plot_data.append(row) elif validate.get("summary") and not validate.get("summary") == "None": if isinstance(validate["summary"], (list, tuple)): plot_files.extend(list(set(validate["summary"]))) else: plot_files.append(validate["summary"]) if plot_files: plots = validateplot.classifyplot_from_plotfiles(plot_files, out_csv) elif plot_data: plots = validateplot.create(plot_data, header, 0, data["config"], os.path.splitext(out_csv)[0]) else: plots = [] for data in vitems: if data.get(vkey): data[vkey]["grading_plots"] = plots for variant in data.get("variants", []): if isinstance(variant, dict) and variant.get(vkey): variant[vkey]["grading_plots"] = plots out.append([data]) return out
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Provide summaries of grading results across all samples. Handles both traditional pipelines (validation part of variants) and CWL pipelines (validation at top level)
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6a9348c0054ccd5baffd22f1bb7d0422f6978b20
https://github.com/bcbio/bcbio-nextgen/blob/6a9348c0054ccd5baffd22f1bb7d0422f6978b20/bcbio/variation/validate.py#L560-L613
237,294
bcbio/bcbio-nextgen
bcbio/variation/validate.py
_summarize_combined
def _summarize_combined(samples, vkey): """Prepare summarized CSV and plot files for samples to combine together. Helps handle cases where we want to summarize over multiple samples. """ validate_dir = utils.safe_makedir(os.path.join(samples[0]["dirs"]["work"], vkey)) combined, _ = _group_validate_samples(samples, vkey, [["metadata", "validate_combine"]]) for vname, vitems in combined.items(): if vname: cur_combined = collections.defaultdict(int) for data in sorted(vitems, key=lambda x: x.get("lane", dd.get_sample_name(x))): validations = [variant.get(vkey) for variant in data.get("variants", [])] validations = [v for v in validations if v] if len(validations) == 0 and vkey in data: validations = [data.get(vkey)] for validate in validations: with open(validate["summary"]) as in_handle: reader = csv.reader(in_handle) next(reader) # header for _, caller, vtype, metric, value in reader: cur_combined[(caller, vtype, metric)] += int(value) out_csv = os.path.join(validate_dir, "grading-summary-%s.csv" % vname) with open(out_csv, "w") as out_handle: writer = csv.writer(out_handle) header = ["sample", "caller", "vtype", "metric", "value"] writer.writerow(header) for (caller, variant_type, category), val in cur_combined.items(): writer.writerow(["combined-%s" % vname, caller, variant_type, category, val]) plots = validateplot.classifyplot_from_valfile(out_csv)
python
def _summarize_combined(samples, vkey): validate_dir = utils.safe_makedir(os.path.join(samples[0]["dirs"]["work"], vkey)) combined, _ = _group_validate_samples(samples, vkey, [["metadata", "validate_combine"]]) for vname, vitems in combined.items(): if vname: cur_combined = collections.defaultdict(int) for data in sorted(vitems, key=lambda x: x.get("lane", dd.get_sample_name(x))): validations = [variant.get(vkey) for variant in data.get("variants", [])] validations = [v for v in validations if v] if len(validations) == 0 and vkey in data: validations = [data.get(vkey)] for validate in validations: with open(validate["summary"]) as in_handle: reader = csv.reader(in_handle) next(reader) # header for _, caller, vtype, metric, value in reader: cur_combined[(caller, vtype, metric)] += int(value) out_csv = os.path.join(validate_dir, "grading-summary-%s.csv" % vname) with open(out_csv, "w") as out_handle: writer = csv.writer(out_handle) header = ["sample", "caller", "vtype", "metric", "value"] writer.writerow(header) for (caller, variant_type, category), val in cur_combined.items(): writer.writerow(["combined-%s" % vname, caller, variant_type, category, val]) plots = validateplot.classifyplot_from_valfile(out_csv)
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Prepare summarized CSV and plot files for samples to combine together. Helps handle cases where we want to summarize over multiple samples.
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6a9348c0054ccd5baffd22f1bb7d0422f6978b20
https://github.com/bcbio/bcbio-nextgen/blob/6a9348c0054ccd5baffd22f1bb7d0422f6978b20/bcbio/variation/validate.py#L615-L643
237,295
bcbio/bcbio-nextgen
bcbio/variation/validate.py
combine_validations
def combine_validations(items, vkey="validate"): """Combine multiple batch validations into validation outputs. """ csvs = set([]) pngs = set([]) for v in [x.get(vkey) for x in items]: if v and v.get("grading_summary"): csvs.add(v.get("grading_summary")) if v and v.get("grading_plots"): pngs |= set(v.get("grading_plots")) if len(csvs) == 1: grading_summary = csvs.pop() else: grading_summary = os.path.join(utils.safe_makedir(os.path.join(dd.get_work_dir(items[0]), vkey)), "grading-summary-combined.csv") with open(grading_summary, "w") as out_handle: for i, csv in enumerate(sorted(list(csvs))): with open(csv) as in_handle: h = in_handle.readline() if i == 0: out_handle.write(h) for l in in_handle: out_handle.write(l) return {"grading_plots": sorted(list(pngs)), "grading_summary": grading_summary}
python
def combine_validations(items, vkey="validate"): csvs = set([]) pngs = set([]) for v in [x.get(vkey) for x in items]: if v and v.get("grading_summary"): csvs.add(v.get("grading_summary")) if v and v.get("grading_plots"): pngs |= set(v.get("grading_plots")) if len(csvs) == 1: grading_summary = csvs.pop() else: grading_summary = os.path.join(utils.safe_makedir(os.path.join(dd.get_work_dir(items[0]), vkey)), "grading-summary-combined.csv") with open(grading_summary, "w") as out_handle: for i, csv in enumerate(sorted(list(csvs))): with open(csv) as in_handle: h = in_handle.readline() if i == 0: out_handle.write(h) for l in in_handle: out_handle.write(l) return {"grading_plots": sorted(list(pngs)), "grading_summary": grading_summary}
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Combine multiple batch validations into validation outputs.
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6a9348c0054ccd5baffd22f1bb7d0422f6978b20
https://github.com/bcbio/bcbio-nextgen/blob/6a9348c0054ccd5baffd22f1bb7d0422f6978b20/bcbio/variation/validate.py#L645-L668
237,296
bcbio/bcbio-nextgen
bcbio/variation/validate.py
freq_summary
def freq_summary(val_file, call_file, truth_file, target_name): """Summarize true and false positive calls by variant type and frequency. Resolve differences in true/false calls based on output from hap.py: https://github.com/sequencing/hap.py """ out_file = "%s-freqs.csv" % utils.splitext_plus(val_file)[0] truth_freqs = _read_truth_freqs(truth_file) call_freqs = _read_call_freqs(call_file, target_name) with VariantFile(val_file) as val_in: with open(out_file, "w") as out_handle: writer = csv.writer(out_handle) writer.writerow(["vtype", "valclass", "freq"]) for rec in val_in: call_type = _classify_rec(rec) val_type = _get_validation_status(rec) key = _get_key(rec) freq = truth_freqs.get(key, call_freqs.get(key, 0.0)) writer.writerow([call_type, val_type, freq]) return out_file
python
def freq_summary(val_file, call_file, truth_file, target_name): out_file = "%s-freqs.csv" % utils.splitext_plus(val_file)[0] truth_freqs = _read_truth_freqs(truth_file) call_freqs = _read_call_freqs(call_file, target_name) with VariantFile(val_file) as val_in: with open(out_file, "w") as out_handle: writer = csv.writer(out_handle) writer.writerow(["vtype", "valclass", "freq"]) for rec in val_in: call_type = _classify_rec(rec) val_type = _get_validation_status(rec) key = _get_key(rec) freq = truth_freqs.get(key, call_freqs.get(key, 0.0)) writer.writerow([call_type, val_type, freq]) return out_file
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Summarize true and false positive calls by variant type and frequency. Resolve differences in true/false calls based on output from hap.py: https://github.com/sequencing/hap.py
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6a9348c0054ccd5baffd22f1bb7d0422f6978b20
https://github.com/bcbio/bcbio-nextgen/blob/6a9348c0054ccd5baffd22f1bb7d0422f6978b20/bcbio/variation/validate.py#L684-L703
237,297
bcbio/bcbio-nextgen
bcbio/variation/validate.py
_read_call_freqs
def _read_call_freqs(in_file, sample_name): """Identify frequencies for calls in the input file. """ from bcbio.heterogeneity import bubbletree out = {} with VariantFile(in_file) as call_in: for rec in call_in: if rec.filter.keys() == ["PASS"]: for name, sample in rec.samples.items(): if name == sample_name: alt, depth, freq = bubbletree.sample_alt_and_depth(rec, sample) if freq is not None: out[_get_key(rec)] = freq return out
python
def _read_call_freqs(in_file, sample_name): from bcbio.heterogeneity import bubbletree out = {} with VariantFile(in_file) as call_in: for rec in call_in: if rec.filter.keys() == ["PASS"]: for name, sample in rec.samples.items(): if name == sample_name: alt, depth, freq = bubbletree.sample_alt_and_depth(rec, sample) if freq is not None: out[_get_key(rec)] = freq return out
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Identify frequencies for calls in the input file.
[ "Identify", "frequencies", "for", "calls", "in", "the", "input", "file", "." ]
6a9348c0054ccd5baffd22f1bb7d0422f6978b20
https://github.com/bcbio/bcbio-nextgen/blob/6a9348c0054ccd5baffd22f1bb7d0422f6978b20/bcbio/variation/validate.py#L721-L734
237,298
bcbio/bcbio-nextgen
bcbio/variation/validate.py
_read_truth_freqs
def _read_truth_freqs(in_file): """Read frequency of calls from truth VCF. Currently handles DREAM data, needs generalization for other datasets. """ out = {} with VariantFile(in_file) as bcf_in: for rec in bcf_in: freq = float(rec.info.get("VAF", 1.0)) out[_get_key(rec)] = freq return out
python
def _read_truth_freqs(in_file): out = {} with VariantFile(in_file) as bcf_in: for rec in bcf_in: freq = float(rec.info.get("VAF", 1.0)) out[_get_key(rec)] = freq return out
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Read frequency of calls from truth VCF. Currently handles DREAM data, needs generalization for other datasets.
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6a9348c0054ccd5baffd22f1bb7d0422f6978b20
https://github.com/bcbio/bcbio-nextgen/blob/6a9348c0054ccd5baffd22f1bb7d0422f6978b20/bcbio/variation/validate.py#L736-L746
237,299
bcbio/bcbio-nextgen
bcbio/cwl/cwlutils.py
to_rec
def to_rec(samples, default_keys=None): """Convert inputs into CWL records, useful for single item parallelization. """ recs = samples_to_records([normalize_missing(utils.to_single_data(x)) for x in samples], default_keys) return [[x] for x in recs]
python
def to_rec(samples, default_keys=None): recs = samples_to_records([normalize_missing(utils.to_single_data(x)) for x in samples], default_keys) return [[x] for x in recs]
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Convert inputs into CWL records, useful for single item parallelization.
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6a9348c0054ccd5baffd22f1bb7d0422f6978b20
https://github.com/bcbio/bcbio-nextgen/blob/6a9348c0054ccd5baffd22f1bb7d0422f6978b20/bcbio/cwl/cwlutils.py#L20-L24