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| | #include <stdio.h> |
| | #include <strings.h> |
| | #include <unistd.h> |
| | #include <getopt.h> |
| | #include <ctype.h> |
| | #include <string.h> |
| | #include <errno.h> |
| | #include <sys/stat.h> |
| | #include <sys/types.h> |
| | #include <inttypes.h> |
| | #include <htslib/faidx.h> |
| | #include <htslib/vcf.h> |
| | #include <htslib/bgzf.h> |
| | #include <htslib/synced_bcf_reader.h> |
| | #include <htslib/vcfutils.h> |
| | #include <htslib/kseq.h> |
| | #include "bcftools.h" |
| | #include "filter.h" |
| | #include "convert.h" |
| | #include "tsv2vcf.h" |
| |
|
| | |
| | #define FLT_INCLUDE 1 |
| | #define FLT_EXCLUDE 2 |
| |
|
| | typedef struct _args_t args_t; |
| | struct _args_t |
| | { |
| | faidx_t *ref; |
| | filter_t *filter; |
| | char *filter_str; |
| | int filter_logic; |
| | convert_t *convert; |
| | bcf_srs_t *files; |
| | bcf_hdr_t *header; |
| | void (*convert_func)(struct _args_t *); |
| | struct { |
| | int total, skipped, hom_rr, het_ra, hom_aa, het_aa, missing, written; |
| | } n; |
| | kstring_t str; |
| | int32_t *gts; |
| | float *flt; |
| | int rev_als, output_vcf_ids, hap2dip, gen_3N6; |
| | int nsamples, *samples, sample_is_file, targets_is_file, regions_is_file, output_type; |
| | int regions_overlap, targets_overlap; |
| | char **argv, *sample_list, *targets_list, *regions_list, *tag, *columns; |
| | char *outfname, *infname, *ref_fname, *sex_fname; |
| | int argc, n_threads, record_cmd_line, keep_duplicates, clevel; |
| | char *index_fn; |
| | int write_index; |
| | struct { |
| | kstring_t ref,alt,refalt; |
| | } tsv; |
| | }; |
| |
|
| | static void destroy_data(args_t *args) |
| | { |
| | if ( args->ref ) fai_destroy(args->ref); |
| | if ( args->convert) convert_destroy(args->convert); |
| | if ( args->filter ) filter_destroy(args->filter); |
| | free(args->samples); |
| | if ( args->files ) bcf_sr_destroy(args->files); |
| | } |
| |
|
| | static void open_vcf(args_t *args, const char *format_str) |
| | { |
| | args->files = bcf_sr_init(); |
| | if ( args->n_threads && bcf_sr_set_threads(args->files, args->n_threads)!=0 ) |
| | error("Could not initialize --threads %d\n", args->n_threads); |
| |
|
| | if ( args->regions_list ) |
| | { |
| | bcf_sr_set_opt(args->files,BCF_SR_REGIONS_OVERLAP,args->regions_overlap); |
| | if ( bcf_sr_set_regions(args->files, args->regions_list, args->regions_is_file)<0 ) |
| | error("Failed to read the regions: %s\n", args->regions_list); |
| | } |
| | if ( args->targets_list ) |
| | { |
| | bcf_sr_set_opt(args->files,BCF_SR_TARGETS_OVERLAP,args->targets_overlap); |
| | if ( bcf_sr_set_targets(args->files, args->targets_list, args->targets_is_file, 0)<0 ) |
| | error("Failed to read the targets: %s\n", args->targets_list); |
| | } |
| | if ( !bcf_sr_add_reader(args->files, args->infname) ) |
| | error("Failed to open %s: %s\n", args->infname,bcf_sr_strerror(args->files->errnum)); |
| |
|
| | args->header = args->files->readers[0].header; |
| |
|
| | if ( args->filter_str ) |
| | args->filter = filter_init(args->header, args->filter_str); |
| |
|
| | int i, nsamples = 0, *samples = NULL; |
| | if ( args->sample_list && strcmp("-",args->sample_list) ) |
| | { |
| | for (i=0; i<args->files->nreaders; i++) |
| | { |
| | int ret = bcf_hdr_set_samples(args->files->readers[i].header,args->sample_list,args->sample_is_file); |
| | if ( ret<0 ) error("Error parsing the sample list\n"); |
| | else if ( ret>0 ) error("Sample name mismatch: sample #%d not found in the header\n", ret); |
| | } |
| |
|
| | if ( args->sample_list[0]!='^' ) |
| | { |
| | |
| | int n; |
| | char **smpls = hts_readlist(args->sample_list, args->sample_is_file, &n); |
| | if ( !smpls ) error("Could not parse %s\n", args->sample_list); |
| | if ( n!=bcf_hdr_nsamples(args->files->readers[0].header) ) |
| | error("The number of samples does not match, perhaps some are present multiple times?\n"); |
| | nsamples = bcf_hdr_nsamples(args->files->readers[0].header); |
| | samples = (int*) malloc(sizeof(int)*nsamples); |
| | for (i=0; i<n; i++) |
| | { |
| | samples[i] = bcf_hdr_id2int(args->files->readers[0].header, BCF_DT_SAMPLE,smpls[i]); |
| | free(smpls[i]); |
| | } |
| | free(smpls); |
| | } |
| | } |
| | if ( format_str ) args->convert = convert_init(args->header, samples, nsamples, format_str); |
| | free(samples); |
| | } |
| |
|
| | static int _set_ref_alt(args_t *args, bcf1_t *rec) |
| | { |
| | args->tsv.refalt.l = 0; |
| | kputs(args->tsv.ref.s, &args->tsv.refalt); |
| | if ( strcmp(".",args->tsv.alt.s) && strcmp(args->tsv.ref.s,args->tsv.alt.s) ) |
| | { |
| | kputc(',', &args->tsv.refalt); |
| | kputs(args->tsv.alt.s, &args->tsv.refalt); |
| | } |
| | bcf_update_alleles_str(args->header, rec, args->tsv.refalt.s); |
| | args->tsv.ref.l = 0; |
| | args->tsv.alt.l = 0; |
| | args->tsv.refalt.l = 0; |
| | return 0; |
| | } |
| | static int tsv_setter_ref(tsv_t *tsv, bcf1_t *rec, void *usr) |
| | { |
| | args_t *args = (args_t*) usr; |
| | kputsn(tsv->ss,tsv->se - tsv->ss,&args->tsv.ref); |
| | if ( args->tsv.alt.l ) return _set_ref_alt(args,rec); |
| | return 0; |
| | } |
| | static int tsv_setter_alt(tsv_t *tsv, bcf1_t *rec, void *usr) |
| | { |
| | args_t *args = (args_t*) usr; |
| | kputsn(tsv->ss,tsv->se - tsv->ss,&args->tsv.alt); |
| | if ( args->tsv.ref.l ) return _set_ref_alt(args,rec); |
| | return 0; |
| | } |
| |
|
| | |
| | static int _set_chrom_pos_ref_alt(tsv_t *tsv, bcf1_t *rec, void *usr) |
| | { |
| | args_t *args = (args_t*) usr; |
| |
|
| | char tmp, *se = tsv->ss, *ss = tsv->ss; |
| | while ( se < tsv->se && *se!=':' ) se++; |
| | if ( *se!=':' ) return -1; |
| | tmp = *se; *se = 0; |
| | int rid = bcf_hdr_name2id(args->header,ss); |
| | *se = tmp; |
| | if ( rid<0 ) return -1; |
| |
|
| | |
| | hts_pos_t pos = strtol(se+1,&ss,10); |
| | if ( ss==se+1 ) return -1; |
| | pos--; |
| |
|
| | |
| | args->str.l = 0; |
| | se = ++ss; |
| | while ( se < tsv->se && *se!='_' ) se++; |
| | if ( *se!='_' ) return -1; |
| | kputsn(ss,se-ss,&args->str); |
| | ss = ++se; |
| | while ( se < tsv->se && *se!='_' && isspace(*tsv->se) ) se++; |
| | if ( se < tsv->se && *se!='_' && isspace(*tsv->se) ) return -1; |
| | kputc(',',&args->str); |
| | kputsn(ss,se-ss,&args->str); |
| |
|
| | |
| | if (*se && *se=='_') |
| | { |
| | long end = strtol(se+1,&ss,10); |
| | if ( ss==se+1 ) return -1; |
| | bcf_update_info_int32(args->header, rec, "END", &end, 1); |
| | } |
| |
|
| | rec->rid = rid; |
| | rec->pos = pos; |
| | bcf_update_alleles_str(args->header, rec, args->str.s); |
| |
|
| | return 0; |
| | } |
| | static int tsv_setter_chrom_pos_ref_alt_or_chrom(tsv_t *tsv, bcf1_t *rec, void *usr) |
| | { |
| | args_t *args = (args_t*)usr; |
| | int ret = _set_chrom_pos_ref_alt(tsv,rec,usr); |
| | if ( !ret ) return ret; |
| | return tsv_setter_chrom(tsv,rec,args->header); |
| | } |
| | static int tsv_setter_chrom_pos_ref_alt(tsv_t *tsv, bcf1_t *rec, void *usr) |
| | { |
| | int ret = _set_chrom_pos_ref_alt(tsv,rec,usr); |
| | if ( ret!=0 ) error("Could not parse the CHROM:POS_REF_ALT[_END] string: %s\n", tsv->ss); |
| | return ret; |
| | } |
| | |
| | |
| | static int tsv_setter_chrom_pos_ref_alt_or_id(tsv_t *tsv, bcf1_t *rec, void *usr) |
| | { |
| | args_t *args = (args_t*)usr; |
| | if ( _set_chrom_pos_ref_alt(tsv,rec,usr)==0 ) return 0; |
| | rec->pos = -1; |
| | if ( !args->output_vcf_ids) return 0; |
| | return tsv_setter_id(tsv,rec,usr); |
| | } |
| | static int tsv_setter_chrom_pos_ref_alt_id_or_die(tsv_t *tsv, bcf1_t *rec, void *usr) |
| | { |
| | args_t *args = (args_t*)usr; |
| | if ( rec->pos!=-1 ) |
| | { |
| | if ( !args->output_vcf_ids ) return 0; |
| | return tsv_setter_id(tsv,rec,usr); |
| | } |
| | return tsv_setter_chrom_pos_ref_alt(tsv,rec,usr); |
| | } |
| | static int tsv_setter_verify_pos(tsv_t *tsv, bcf1_t *rec, void *usr) |
| | { |
| | char *se; |
| | int pos = strtol(tsv->ss,&se,10); |
| | if ( tsv->ss==se ) error("Could not parse POS: %s\n", tsv->ss); |
| | if ( rec->pos != pos-1 ) error("POS mismatch: %s\n", tsv->ss); |
| | return 0; |
| | } |
| | static int tsv_setter_verify_ref_alt(tsv_t *tsv, bcf1_t *rec, void *usr) |
| | { |
| | args_t *args = (args_t*) usr; |
| | args->rev_als = 0; |
| | char tmp = *tsv->se; *tsv->se = 0; |
| | if ( strcmp(tsv->ss,rec->d.allele[0]) ) |
| | { |
| | if ( strcmp(tsv->ss,rec->d.allele[1]) ) { *tsv->se = tmp; error("REF/ALT mismatch: [%s][%s]\n", tsv->ss,rec->d.allele[1]); } |
| | args->rev_als = 1; |
| | } |
| | *tsv->se = tmp; |
| | while ( *tsv->se && isspace(*tsv->se) ) tsv->se++; |
| | tsv->ss = tsv->se; |
| | while ( *tsv->se && !isspace(*tsv->se) ) tsv->se++; |
| | tmp = *tsv->se; *tsv->se = 0; |
| | if ( !args->rev_als && strcmp(tsv->ss,rec->d.allele[1]) ) { *tsv->se = tmp; error("REF/ALT mismatch: [%s][%s]\n", tsv->ss,rec->d.allele[1]); } |
| | else if ( args->rev_als && strcmp(tsv->ss,rec->d.allele[0]) ) { *tsv->se = tmp; error("REF/ALT mismatch: [%s][%s]\n", tsv->ss,rec->d.allele[0]); } |
| | *tsv->se = tmp; |
| | return 0; |
| | } |
| | static int tsv_setter_gt_gp(tsv_t *tsv, bcf1_t *rec, void *usr) |
| | { |
| | args_t *args = (args_t*) usr; |
| | int i, nsamples = bcf_hdr_nsamples(args->header); |
| | for (i=0; i<nsamples; i++) |
| | { |
| | float aa,ab,bb; |
| | aa = strtod(tsv->ss, &tsv->se); |
| | if ( tsv->ss==tsv->se ) { fprintf(stderr,"Could not parse first value of %d-th sample\n", i+1); return -1; } |
| | tsv->ss = tsv->se+1; |
| | ab = strtod(tsv->ss, &tsv->se); |
| | if ( tsv->ss==tsv->se ) { fprintf(stderr,"Could not parse second value of %d-th sample\n", i+1); return -1; } |
| | tsv->ss = tsv->se+1; |
| | bb = strtod(tsv->ss, &tsv->se); |
| | if ( tsv->ss==tsv->se ) { fprintf(stderr,"Could not parse third value of %d-th sample\n", i+1); return -1; } |
| | tsv->ss = tsv->se+1; |
| |
|
| | if ( args->rev_als ) { float tmp = bb; bb = aa; aa = tmp; } |
| | args->flt[3*i+0] = aa; |
| | args->flt[3*i+1] = ab; |
| | args->flt[3*i+2] = bb; |
| |
|
| | if ( aa >= ab ) |
| | { |
| | if ( aa >= bb ) args->gts[2*i+0] = args->gts[2*i+1] = bcf_gt_unphased(0); |
| | else args->gts[2*i+0] = args->gts[2*i+1] = bcf_gt_unphased(1); |
| | } |
| | else if ( ab >= bb ) |
| | { |
| | args->gts[2*i+0] = bcf_gt_unphased(0); |
| | args->gts[2*i+1] = bcf_gt_unphased(1); |
| | } |
| | else args->gts[2*i+0] = args->gts[2*i+1] = bcf_gt_unphased(1); |
| | } |
| | if ( *tsv->se ) error("Could not parse: %s\n", tsv->ss); |
| | if ( bcf_update_genotypes(args->header,rec,args->gts,nsamples*2) ) error("Could not update GT field\n"); |
| | if ( bcf_update_format_float(args->header,rec,"GP",args->flt,nsamples*3) ) error("Could not update GP field\n"); |
| | return 0; |
| | } |
| | static int tsv_setter_haps(tsv_t *tsv, bcf1_t *rec, void *usr) |
| | { |
| | args_t *args = (args_t*) usr; |
| | int i, nsamples = bcf_hdr_nsamples(args->header); |
| |
|
| | int32_t a0, a1; |
| | if ( args->rev_als ) { a0 = bcf_gt_phased(1); a1 = bcf_gt_phased(0); } |
| | else { a0 = bcf_gt_phased(0); a1 = bcf_gt_phased(1); } |
| |
|
| | |
| | int nup = 0; |
| | for (i=0; i<nsamples; i++) |
| | { |
| | char *ss = tsv->ss + 4*i + nup; |
| | int up = 0, all; |
| |
|
| | for (all=0; all < 2; all++){ |
| | |
| | if ( !ss[0] || !ss[1] || !ss[2] || |
| | (up && (!ss[3] || !ss[4]) ) ) |
| | { |
| | fprintf(stderr,"Wrong number of fields at %d-th sample ([%c][%c][%c]). ",i+1,ss[0],ss[1],ss[2]); |
| | return -1; |
| | } |
| |
|
| | switch(ss[all*2+up]){ |
| | case '0': |
| | args->gts[2*i+all] = a0; |
| | break; |
| | case '1' : |
| | args->gts[2*i+all] = a1; |
| | break; |
| | case '?' : |
| | |
| | args->gts[2*i+all] = bcf_gt_phased(-1); |
| | break; |
| | case '-' : |
| | args->gts[2*i+all] = bcf_int32_vector_end; |
| | break; |
| | default : |
| | fprintf(stderr,"Could not parse: [%c][%s]\n", ss[all*2+up],tsv->ss); |
| | return -1; |
| | } |
| | if( ss[all*2+up+1]=='*' ) up = up + 1; |
| | } |
| |
|
| | if(up && up != 2) |
| | { |
| | fprintf(stderr,"Missing unphased marker '*': [%c][%s]", ss[2+up], tsv->ss); |
| | return -1; |
| | } |
| |
|
| | |
| | if ( up ) |
| | { |
| | args->gts[2*i] = bcf_gt_unphased(bcf_gt_allele(args->gts[2*i])); |
| | args->gts[2*i+1] = bcf_gt_unphased(bcf_gt_allele(args->gts[2*i+1])); |
| | } |
| | nup = nup + up; |
| | } |
| | if ( tsv->ss[(nsamples-1)*4+3+nup] ) |
| | { |
| | fprintf(stderr,"nup: %d", nup); |
| | fprintf(stderr,"Wrong number of fields (%d-th column = [%c]). ", nsamples*2,tsv->ss[(nsamples-1)*4+nup]); |
| | return -1; |
| | } |
| |
|
| | if ( bcf_update_genotypes(args->header,rec,args->gts,nsamples*2) ) error("Could not update GT field\n"); |
| | return 0; |
| | } |
| | static void gensample_to_vcf(args_t *args) |
| | { |
| | |
| | |
| | |
| | |
| | |
| | |
| | |
| | |
| | |
| | |
| | |
| | |
| | |
| | |
| | kstring_t line = {0,0,0}; |
| |
|
| | char *gen_fname = NULL, *sample_fname = NULL; |
| | sample_fname = strchr(args->infname,','); |
| | if ( !sample_fname ) |
| | { |
| | args->str.l = 0; |
| | ksprintf(&args->str,"%s.gen.gz", args->infname); |
| | gen_fname = strdup(args->str.s); |
| | args->str.l = 0; |
| | ksprintf(&args->str,"%s.samples", args->infname); |
| | sample_fname = strdup(args->str.s); |
| | } |
| | else |
| | { |
| | *sample_fname = 0; |
| | gen_fname = strdup(args->infname); |
| | sample_fname = strdup(sample_fname+1); |
| | } |
| | htsFile *gen_fh = hts_open(gen_fname, "r"); |
| | if ( !gen_fh ) error("Could not read: %s\n", gen_fname); |
| | if ( hts_getline(gen_fh, KS_SEP_LINE, &line) <= 0 ) error("Empty file: %s\n", gen_fname); |
| |
|
| | |
| | |
| | args->str.l = 0; |
| | char *sb = line.s, *se = line.s; |
| | while ( *se && !isspace(*se) ) se++; |
| | if ( !*se ) error("Could not determine CHROM in %s: %s\n", gen_fname,line.s); |
| | if ( args->gen_3N6 ) |
| | kputsn(sb, se-sb, &args->str); |
| | else |
| | { |
| | char *sc = strchr(sb,':'); |
| | if ( !sc || sc > se ) |
| | { |
| | while ( *se && !isspace(*se) ) se++; |
| | if ( !*se ) error("Could not determine CHROM in %s: %s\n", gen_fname,line.s); |
| | sb = ++se; |
| | sc = strchr(sb,':'); |
| | if ( !sc ) error("Could not determine CHROM in %s: %s\n", gen_fname,line.s); |
| | } |
| | kputsn(sb, sc-sb, &args->str); |
| | } |
| |
|
| | |
| | args->header = bcf_hdr_init("w"); |
| | bcf_hdr_append(args->header, "##INFO=<ID=END,Number=1,Type=Integer,Description=\"End position of the variant described in this record\">"); |
| | bcf_hdr_append(args->header, "##FORMAT=<ID=GT,Number=1,Type=String,Description=\"Genotype\">"); |
| | bcf_hdr_append(args->header, "##FORMAT=<ID=GP,Number=G,Type=Float,Description=\"Genotype Probabilities\">"); |
| | bcf_hdr_printf(args->header, "##contig=<ID=%s,length=%d>", args->str.s,0x7fffffff); |
| | if (args->record_cmd_line) bcf_hdr_append_version(args->header, args->argc, args->argv, "bcftools_convert"); |
| |
|
| | tsv_t *tsv; |
| | if ( args->gen_3N6 ) |
| | { |
| | tsv = tsv_init("CHROM,CHROM_POS_REF_ALT,ID,POS,REF_ALT,GT_GP"); |
| | tsv_register(tsv, "CHROM", tsv_setter_chrom, args->header); |
| | } |
| | else |
| | tsv = tsv_init("CHROM_POS_REF_ALT,ID,POS,REF_ALT,GT_GP"); |
| | tsv_register(tsv, "CHROM_POS_REF_ALT", tsv_setter_chrom_pos_ref_alt_or_id, args); |
| | tsv_register(tsv, "ID", tsv_setter_chrom_pos_ref_alt_id_or_die, args); |
| | tsv_register(tsv, "POS", tsv_setter_verify_pos, NULL); |
| | tsv_register(tsv, "REF_ALT", tsv_setter_verify_ref_alt, args); |
| | tsv_register(tsv, "GT_GP", tsv_setter_gt_gp, args); |
| |
|
| | |
| | int i, nsamples; |
| | char **samples = hts_readlist(sample_fname, 1, &nsamples); |
| | if ( !samples ) error("Could not read %s\n", sample_fname); |
| | for (i=2; i<nsamples; i++) |
| | { |
| | se = samples[i]; while ( *se && !isspace(*se) ) se++; |
| | *se = 0; |
| | bcf_hdr_add_sample(args->header,samples[i]); |
| | } |
| | for (i=0; i<nsamples; i++) free(samples[i]); |
| | free(samples); |
| |
|
| | char wmode[8]; |
| | set_wmode(wmode,args->output_type,args->outfname,args->clevel); |
| | htsFile *out_fh = hts_open(args->outfname ? args->outfname : "-", wmode); |
| | if ( out_fh == NULL ) error("Can't write to \"%s\": %s\n", args->outfname, strerror(errno)); |
| | if ( args->n_threads ) hts_set_threads(out_fh, args->n_threads); |
| | if ( bcf_hdr_write(out_fh,args->header)!=0 ) error("[%s] Error: cannot write the header to %s\n", __func__,args->outfname); |
| | if ( args->write_index && init_index(out_fh,args->header,args->outfname,&args->index_fn)<0 ) error("Error: failed to initialise index for %s\n",args->outfname); |
| | bcf1_t *rec = bcf_init(); |
| |
|
| | nsamples -= 2; |
| | args->gts = (int32_t *) malloc(sizeof(int32_t)*nsamples*2); |
| | args->flt = (float *) malloc(sizeof(float)*nsamples*3); |
| |
|
| | do |
| | { |
| | bcf_clear(rec); |
| | args->n.total++; |
| | if ( !tsv_parse(tsv, rec, line.s) ) |
| | { |
| | if ( bcf_write(out_fh, args->header, rec)!=0 ) error("[%s] Error: cannot write to %s\n", __func__,args->outfname); |
| | } |
| | else |
| | error("Error occurred while parsing: %s\n", line.s); |
| | } |
| | while ( hts_getline(gen_fh, KS_SEP_LINE, &line)>0 ); |
| |
|
| | if ( args->write_index ) |
| | { |
| | if ( bcf_idx_save(out_fh)<0 ) |
| | { |
| | if ( hts_close(out_fh) ) error("Close failed: %s\n", args->outfname); |
| | error("Error: cannot write to index %s\n", args->index_fn); |
| | } |
| | free(args->index_fn); |
| | } |
| | if ( hts_close(out_fh) ) error("Close failed: %s\n", args->outfname); |
| | if ( hts_close(gen_fh) ) error("Close failed: %s\n", gen_fname); |
| | bcf_hdr_destroy(args->header); |
| | bcf_destroy(rec); |
| | free(sample_fname); |
| | free(gen_fname); |
| | free(args->str.s); |
| | free(line.s); |
| | free(args->gts); |
| | free(args->flt); |
| | tsv_destroy(tsv); |
| |
|
| | fprintf(stderr,"Number of processed rows: \t%d\n", args->n.total); |
| | } |
| |
|
| | static void haplegendsample_to_vcf(args_t *args) |
| | { |
| | |
| | |
| | |
| | |
| | |
| | |
| | |
| | |
| | |
| | |
| | |
| | |
| | |
| | |
| | |
| | kstring_t line = {0,0,0}; |
| |
|
| | if ( args->output_vcf_ids ) |
| | error( |
| | "The option --haplegendsample2vcf cannot be combined with --vcf-ids. This is because the\n" |
| | "ID column must be formatted as \"CHROM:POS_REF_ALT\" to check sanity of the operation\n"); |
| |
|
| | char *hap_fname = NULL, *leg_fname = NULL, *sample_fname = NULL; |
| | sample_fname = strchr(args->infname,','); |
| | if ( !sample_fname ) |
| | { |
| | args->str.l = 0; |
| | ksprintf(&args->str,"%s.hap.gz", args->infname); |
| | hap_fname = strdup(args->str.s); |
| | args->str.l = 0; |
| | ksprintf(&args->str,"%s.samples", args->infname); |
| | sample_fname = strdup(args->str.s); |
| | args->str.l = 0; |
| | ksprintf(&args->str,"%s.legend.gz", args->infname); |
| | leg_fname = strdup(args->str.s); |
| | } |
| | else |
| | { |
| | char *ss = sample_fname, *se = strchr(ss+1,','); |
| | if ( !se ) error("Could not parse hap/legend/sample file names: %s\n", args->infname); |
| | *ss = 0; |
| | *se = 0; |
| | hap_fname = strdup(args->infname); |
| | leg_fname = strdup(ss+1); |
| | sample_fname = strdup(se+1); |
| | } |
| | htsFile *hap_fh = hts_open(hap_fname, "r"); |
| | if ( !hap_fh ) error("Could not read: %s\n", hap_fname); |
| |
|
| | htsFile *leg_fh = hts_open(leg_fname,"r"); |
| | if ( !leg_fh ) error("Could not read: %s\n", leg_fname); |
| |
|
| | |
| | if ( hts_getline(leg_fh, KS_SEP_LINE, &line) <= 0 ) error("Empty file: %s\n", leg_fname); |
| | if ( hts_getline(leg_fh, KS_SEP_LINE, &line) <= 0 ) error("Empty file: %s\n", leg_fname); |
| |
|
| | |
| | args->str.l = 0; |
| | char *se = strchr(line.s,':'); |
| | if ( !se ) error("Expected CHROM:POS_REF_ALT in first column of %s\n", leg_fname); |
| | kputsn(line.s, se-line.s, &args->str); |
| |
|
| | tsv_t *leg_tsv = tsv_init("CHROM_POS_REF_ALT,POS,REF_ALT"); |
| | tsv_register(leg_tsv, "CHROM_POS_REF_ALT", tsv_setter_chrom_pos_ref_alt, args); |
| | tsv_register(leg_tsv, "POS", tsv_setter_verify_pos, NULL); |
| | tsv_register(leg_tsv, "REF_ALT", tsv_setter_verify_ref_alt, args); |
| | tsv_t *hap_tsv = tsv_init("HAPS"); |
| | tsv_register(hap_tsv, "HAPS", tsv_setter_haps, args); |
| |
|
| | args->header = bcf_hdr_init("w"); |
| | bcf_hdr_append(args->header, "##INFO=<ID=END,Number=1,Type=Integer,Description=\"End position of the variant described in this record\">"); |
| | bcf_hdr_append(args->header, "##FORMAT=<ID=GT,Number=1,Type=String,Description=\"Genotype\">"); |
| | bcf_hdr_printf(args->header, "##contig=<ID=%s,length=%d>", args->str.s,0x7fffffff); |
| | if (args->record_cmd_line) bcf_hdr_append_version(args->header, args->argc, args->argv, "bcftools_convert"); |
| |
|
| | int i, nrows, nsamples; |
| | char **samples = hts_readlist(sample_fname, 1, &nrows); |
| | if ( !samples ) error("Could not read %s\n", sample_fname); |
| | nsamples = nrows - 1; |
| |
|
| | |
| | |
| | for (i=1; i<nrows; i++) |
| | { |
| | se = samples[i]; while ( *se && !isspace(*se) ) se++; |
| | *se = 0; |
| | bcf_hdr_add_sample(args->header,samples[i]); |
| | } |
| | bcf_hdr_add_sample(args->header,NULL); |
| | for (i=0; i<nrows; i++) free(samples[i]); |
| | free(samples); |
| |
|
| | char wmode[8]; |
| | set_wmode(wmode,args->output_type,args->outfname,args->clevel); |
| | htsFile *out_fh = hts_open(args->outfname ? args->outfname : "-", wmode); |
| | if ( out_fh == NULL ) error("Can't write to \"%s\": %s\n", args->outfname, strerror(errno)); |
| | if ( args->n_threads ) hts_set_threads(out_fh, args->n_threads); |
| | if ( bcf_hdr_write(out_fh,args->header)!=0 ) error("[%s] Error: cannot write the header to %s\n", __func__,args->outfname); |
| | if ( args->write_index && init_index(out_fh,args->header,args->outfname,&args->index_fn)<0 ) error("Error: failed to initialise index for %s\n",args->outfname); |
| | bcf1_t *rec = bcf_init(); |
| |
|
| | args->gts = (int32_t *) malloc(sizeof(int32_t)*nsamples*2); |
| |
|
| | while (1) |
| | { |
| | bcf_clear(rec); |
| | args->n.total++; |
| | if ( tsv_parse(leg_tsv, rec, line.s) ) |
| | error("Error occurred while parsing %s: %s\n", leg_fname,line.s); |
| |
|
| | if ( hts_getline(hap_fh, KS_SEP_LINE, &line)<=0 ) |
| | error("Different number of records in %s and %s?\n", leg_fname,hap_fname); |
| |
|
| | if ( tsv_parse(hap_tsv, rec, line.s) ) |
| | error("Error occurred while parsing %s: %s\n", hap_fname,line.s); |
| |
|
| | if ( bcf_write(out_fh, args->header, rec)!=0 ) error("[%s] Error: cannot write to %s\n", __func__,args->outfname); |
| |
|
| | if ( hts_getline(leg_fh, KS_SEP_LINE, &line)<=0 ) |
| | { |
| | if ( hts_getline(hap_fh, KS_SEP_LINE, &line)>0 ) |
| | error("Different number of records in %s and %s?\n", leg_fname,hap_fname); |
| | break; |
| | } |
| | } |
| |
|
| | if ( args->write_index ) |
| | { |
| | if ( bcf_idx_save(out_fh)<0 ) |
| | { |
| | if ( hts_close(out_fh) ) error("Close failed: %s\n", args->outfname); |
| | error("Error: cannot write to index %s\n", args->index_fn); |
| | } |
| | free(args->index_fn); |
| | } |
| | if ( hts_close(out_fh) ) error("Close failed: %s\n", args->outfname); |
| | if ( hts_close(hap_fh) ) error("Close failed: %s\n", hap_fname); |
| | if ( hts_close(leg_fh) ) error("Close failed: %s\n", leg_fname); |
| | bcf_hdr_destroy(args->header); |
| | bcf_destroy(rec); |
| | free(sample_fname); |
| | free(hap_fname); |
| | free(leg_fname); |
| | free(args->str.s); |
| | free(line.s); |
| | free(args->gts); |
| | tsv_destroy(hap_tsv); |
| | tsv_destroy(leg_tsv); |
| |
|
| | fprintf(stderr,"Number of processed rows: \t%d\n", args->n.total); |
| | } |
| |
|
| | static void hapsample_to_vcf(args_t *args) |
| | { |
| | |
| | |
| | |
| | |
| | |
| | |
| | |
| | |
| | |
| | |
| | |
| | kstring_t line = {0,0,0}; |
| |
|
| | char *hap_fname = NULL, *sample_fname = NULL; |
| | sample_fname = strchr(args->infname,','); |
| | if ( !sample_fname ) |
| | { |
| | args->str.l = 0; |
| | ksprintf(&args->str,"%s.hap.gz", args->infname); |
| | hap_fname = strdup(args->str.s); |
| | args->str.l = 0; |
| | ksprintf(&args->str,"%s.samples", args->infname); |
| | sample_fname = strdup(args->str.s); |
| | } |
| | else |
| | { |
| | *sample_fname = 0; |
| | hap_fname = strdup(args->infname); |
| | sample_fname = strdup(sample_fname+1); |
| | } |
| | htsFile *hap_fh = hts_open(hap_fname, "r"); |
| | if ( !hap_fh ) error("Could not read: %s\n", hap_fname); |
| | if ( hts_getline(hap_fh, KS_SEP_LINE, &line) <= 0 ) error("Empty file: %s\n", hap_fname); |
| |
|
| | |
| | args->str.l = 0; |
| | char *sb = line.s, *se = line.s; |
| | while ( *se && !isspace(*se) ) se++; |
| | if ( !*se ) error("Could not determine CHROM in %s: %s\n", hap_fname,line.s); |
| | if ( !args->output_vcf_ids ) |
| | { |
| | |
| | sb = ++se; |
| | while ( *se && !isspace(*se) ) se++; |
| | if ( !*se ) error("Could not determine CHROM in %s: %s\n", hap_fname,line.s); |
| | if ( !strchr(sb,':') ) |
| | error("Could not determine CHROM in the second column of %s: %s\n", hap_fname,line.s); |
| | } |
| | |
| | char *sc = strchr(sb,':'); |
| | if ( !sc || sc > se ) |
| | error("Could not determine CHROM in %s: %s\n", hap_fname,line.s); |
| | kputsn(sb, sc-sb, &args->str); |
| |
|
| | |
| | args->header = bcf_hdr_init("w"); |
| | bcf_hdr_append(args->header, "##INFO=<ID=END,Number=1,Type=Integer,Description=\"End position of the variant described in this record\">"); |
| | bcf_hdr_append(args->header, "##FORMAT=<ID=GT,Number=1,Type=String,Description=\"Genotype\">"); |
| | bcf_hdr_printf(args->header, "##contig=<ID=%s,length=%d>", args->str.s,0x7fffffff); |
| | if (args->record_cmd_line) bcf_hdr_append_version(args->header, args->argc, args->argv, "bcftools_convert"); |
| |
|
| | tsv_t *tsv; |
| | if ( args->output_vcf_ids ) |
| | { |
| | tsv = tsv_init("CHROM_POS_REF_ALT,ID,POS,REF_ALT,HAPS"); |
| | tsv_register(tsv, "ID", tsv_setter_id, args); |
| | } |
| | else |
| | { |
| | tsv = tsv_init("CHROM,CHROM_POS_REF_ALT,POS,REF_ALT,HAPS"); |
| | tsv_register(tsv, "CHROM", tsv_setter_chrom_pos_ref_alt_or_chrom, args); |
| | } |
| | tsv_register(tsv, "CHROM_POS_REF_ALT", tsv_setter_chrom_pos_ref_alt, args); |
| | tsv_register(tsv, "POS", tsv_setter_verify_pos, NULL); |
| | tsv_register(tsv, "REF_ALT", tsv_setter_verify_ref_alt, args); |
| | tsv_register(tsv, "HAPS", tsv_setter_haps, args); |
| |
|
| | int i, nsamples; |
| | char **samples = hts_readlist(sample_fname, 1, &nsamples); |
| | if ( !samples ) error("Could not read %s\n", sample_fname); |
| | for (i=2; i<nsamples; i++) |
| | { |
| | se = samples[i]; while ( *se && !isspace(*se) ) se++; |
| | *se = 0; |
| | bcf_hdr_add_sample(args->header,samples[i]); |
| | } |
| | bcf_hdr_add_sample(args->header,NULL); |
| | for (i=0; i<nsamples; i++) free(samples[i]); |
| | free(samples); |
| |
|
| | char wmode[8]; |
| | set_wmode(wmode,args->output_type,args->outfname,args->clevel); |
| | htsFile *out_fh = hts_open(args->outfname ? args->outfname : "-", wmode); |
| | if ( out_fh == NULL ) error("Can't write to \"%s\": %s\n", args->outfname, strerror(errno)); |
| | if ( args->n_threads ) hts_set_threads(out_fh, args->n_threads); |
| | if ( bcf_hdr_write(out_fh,args->header)!=0 ) error("[%s] Error: cannot write to %s\n", __func__,args->outfname); |
| | if ( args->write_index && init_index(out_fh,args->header,args->outfname,&args->index_fn)<0 ) error("Error: failed to initialise index for %s\n",args->outfname); |
| | bcf1_t *rec = bcf_init(); |
| |
|
| | nsamples -= 2; |
| | args->gts = (int32_t *) malloc(sizeof(int32_t)*nsamples*2); |
| |
|
| | do |
| | { |
| | bcf_clear(rec); |
| | args->n.total++; |
| | if ( !tsv_parse(tsv, rec, line.s) ) |
| | { |
| | if ( bcf_write(out_fh, args->header, rec)!=0 ) error("[%s] Error: cannot write to %s\n", __func__,args->outfname); |
| | } |
| | else |
| | error("Error occurred while parsing: %s\n", line.s); |
| | } |
| | while ( hts_getline(hap_fh, KS_SEP_LINE, &line)>0 ); |
| |
|
| | if ( args->write_index ) |
| | { |
| | if ( bcf_idx_save(out_fh)<0 ) |
| | { |
| | if ( hts_close(out_fh) ) error("Close failed: %s\n", args->outfname); |
| | error("Error: cannot write to index %s\n", args->index_fn); |
| | } |
| | free(args->index_fn); |
| | } |
| | if ( hts_close(out_fh) ) error("Close failed: %s\n", args->outfname); |
| | if ( hts_close(hap_fh) ) error("Close failed: %s\n", hap_fname); |
| | bcf_hdr_destroy(args->header); |
| | bcf_destroy(rec); |
| | free(sample_fname); |
| | free(hap_fname); |
| | free(args->str.s); |
| | free(line.s); |
| | free(args->gts); |
| | tsv_destroy(tsv); |
| |
|
| | fprintf(stderr,"Number of processed rows: \t%d\n", args->n.total); |
| | } |
| |
|
| | char *init_sample2sex(bcf_hdr_t *hdr, char *sex_fname) |
| | { |
| | int i, nlines; |
| | char *sample2sex = (char*) calloc(bcf_hdr_nsamples(hdr),1); |
| | char **lines = hts_readlist(sex_fname, 1, &nlines); |
| | if ( !lines ) error("Could not read %s\n", sex_fname); |
| | for (i=0; i<nlines; i++) |
| | { |
| | char *se = lines[i]; while ( *se && !isspace(*se) ) se++; |
| | char tmp = *se; |
| | *se = 0; |
| | int id = bcf_hdr_id2int(hdr, BCF_DT_SAMPLE, lines[i]); |
| | *se = tmp; |
| | if ( id<0 ) continue; |
| | while ( *se && isspace(*se) ) se++; |
| | if ( *se=='M' ) sample2sex[id] = '1'; |
| | else if ( *se=='F' ) sample2sex[id] = '2'; |
| | else error("Could not parse %s: %s\n", sex_fname,lines[i]); |
| | } |
| | for (i=0; i<nlines; i++) free(lines[i]); |
| | free(lines); |
| | for (i=0; i<bcf_hdr_nsamples(hdr); i++) |
| | if ( !sample2sex[i] ) error("Missing sex for sample %s in %s\n", bcf_hdr_int2id(hdr, BCF_DT_SAMPLE, i),sex_fname); |
| | return sample2sex; |
| | } |
| |
|
| | static void vcf_to_gensample(args_t *args) |
| | { |
| | kstring_t str = {0,0,0}; |
| |
|
| | |
| | if ( args->gen_3N6 ) |
| | kputs("%CHROM ", &str); |
| |
|
| | kputs("%CHROM:%POS\\_%REF\\_%FIRST_ALT ", &str); |
| |
|
| | |
| | if ( args->output_vcf_ids ) |
| | kputs("%ID ", &str); |
| | else |
| | kputs("%CHROM:%POS\\_%REF\\_%FIRST_ALT ", &str); |
| |
|
| | kputs("%POS %REF %FIRST_ALT", &str); |
| | if ( !args->tag || !strcmp(args->tag,"GT") ) kputs("%_GT_TO_PROB3",&str); |
| | else if ( !strcmp(args->tag,"PL") ) kputs("%_PL_TO_PROB3",&str); |
| | else if ( !strcmp(args->tag,"GP") ) kputs("%_GP_TO_PROB3",&str); |
| | else error("todo: --tag %s\n", args->tag); |
| | kputs("\n", &str); |
| | open_vcf(args,str.s); |
| |
|
| | int ret, gen_compressed = 1, sample_compressed = 0; |
| | char *gen_fname = NULL, *sample_fname = NULL; |
| | str.l = 0; |
| | kputs(args->outfname,&str); |
| | int n_files = 0, i; |
| | char **files = hts_readlist(str.s, 0, &n_files); |
| | if ( n_files==1 ) |
| | { |
| | int l = str.l; |
| | kputs(".samples",&str); |
| | sample_fname = strdup(str.s); |
| | str.l = l; |
| | kputs(".gen.gz",&str); |
| | gen_fname = strdup(str.s); |
| | } |
| | else if ( n_files==2 ) |
| | { |
| | if (strlen(files[0]) && strcmp(files[0],".")!=0) gen_fname = strdup(files[0]); |
| | if (strlen(files[1]) && strcmp(files[1],".")!=0) sample_fname = strdup(files[1]); |
| | } |
| | else |
| | { |
| | error("Error parsing --gensample filenames: %s\n", args->outfname); |
| | } |
| | for (i=0; i<n_files; i++) free(files[i]); |
| | free(files); |
| |
|
| | if ( gen_fname && (strlen(gen_fname)<3 || strcasecmp(".gz",gen_fname+strlen(gen_fname)-3)) ) gen_compressed = 0; |
| | if ( sample_fname && strlen(sample_fname)>3 && strcasecmp(".gz",sample_fname+strlen(sample_fname)-3)==0 ) sample_compressed = 0; |
| |
|
| | if (gen_fname) fprintf(stderr, "Gen file: %s\n", gen_fname); |
| | if (sample_fname) fprintf(stderr, "Sample file: %s\n", sample_fname); |
| |
|
| | |
| | if (sample_fname) |
| | { |
| | char *sample2sex = NULL; |
| | if ( args->sex_fname ) sample2sex = init_sample2sex(args->header,args->sex_fname); |
| |
|
| | int i; |
| | BGZF *sout = bgzf_open(sample_fname, sample_compressed ? "wg" : "wu"); |
| | str.l = 0; |
| | kputs(sample2sex ? "ID_1 ID_2 missing sex\n0 0 0 0\n" : "ID_1 ID_2 missing\n0 0 0\n", &str); |
| | ret = bgzf_write(sout, str.s, str.l); |
| | if ( ret != str.l ) error("Error writing %s: %s\n", sample_fname, strerror(errno)); |
| | for (i=0; i<bcf_hdr_nsamples(args->header); i++) |
| | { |
| | str.l = 0; |
| | if ( sample2sex ) |
| | ksprintf(&str, "%s %s 0 %c\n", args->header->samples[i],args->header->samples[i],sample2sex[i]); |
| | else |
| | ksprintf(&str, "%s %s 0\n", args->header->samples[i],args->header->samples[i]); |
| | ret = bgzf_write(sout, str.s, str.l); |
| | if ( ret != str.l ) error("Error writing %s: %s\n", sample_fname, strerror(errno)); |
| | } |
| | if ( bgzf_close(sout)!=0 ) error("Error closing %s: %s\n", sample_fname, strerror(errno)); |
| | free(sample_fname); |
| | free(sample2sex); |
| | } |
| | if (!gen_fname) { |
| | if ( str.m ) free(str.s); |
| | return; |
| | } |
| |
|
| | int prev_rid = -1, prev_pos = -1; |
| | int no_alt = 0, non_biallelic = 0, filtered = 0, ndup = 0, nok = 0; |
| | BGZF *gout = bgzf_open(gen_fname, gen_compressed ? "wg" : "wu"); |
| | while ( bcf_sr_next_line(args->files) ) |
| | { |
| | bcf1_t *line = bcf_sr_get_line(args->files,0); |
| | if ( args->filter ) |
| | { |
| | int pass = filter_test(args->filter, line, NULL); |
| | if ( args->filter_logic & FLT_EXCLUDE ) pass = pass ? 0 : 1; |
| | if ( !pass ) { filtered++; continue; } |
| | } |
| |
|
| | |
| | if ( line->n_allele<2 ) { no_alt++; continue; } |
| |
|
| | |
| | if ( line->n_allele>2 ) { |
| | if (!non_biallelic) |
| | fprintf(stderr, "Warning: non-biallelic records are skipped. Consider splitting multi-allelic records into biallelic records using 'bcftools norm -m-'.\n"); |
| | non_biallelic++; |
| | continue; |
| | } |
| |
|
| | |
| | if ( !args->keep_duplicates && prev_rid==line->rid && prev_pos==line->pos ) { ndup++; continue; } |
| | prev_rid = line->rid; |
| | prev_pos = line->pos; |
| |
|
| | str.l = 0; |
| | convert_line(args->convert, line, &str); |
| | if ( str.l ) |
| | { |
| | int ret = bgzf_write(gout, str.s, str.l); |
| | if ( ret!= str.l ) error("Error writing %s: %s\n", gen_fname,strerror(errno)); |
| | nok++; |
| | } |
| | } |
| | fprintf(stderr, "%d records written, %d skipped: %d/%d/%d/%d no-ALT/non-biallelic/filtered/duplicated\n", |
| | nok, no_alt+non_biallelic+filtered+ndup, no_alt, non_biallelic, filtered, ndup); |
| |
|
| | if ( str.m ) free(str.s); |
| | if ( bgzf_close(gout)!=0 ) error("Error closing %s: %s\n", gen_fname,strerror(errno)); |
| | free(gen_fname); |
| | } |
| |
|
| | static void vcf_to_haplegendsample(args_t *args) |
| | { |
| | kstring_t str = {0,0,0}; |
| | if ( args->hap2dip ) |
| | kputs("%_GT_TO_HAP2\n", &str); |
| | else |
| | kputs("%_GT_TO_HAP\n", &str); |
| | open_vcf(args,str.s); |
| |
|
| | int ret, hap_compressed = 1, legend_compressed = 1, sample_compressed = 0; |
| | char *hap_fname = NULL, *legend_fname = NULL, *sample_fname = NULL; |
| | str.l = 0; |
| | kputs(args->outfname,&str); |
| | int n_files = 0, i; |
| | char **files = hts_readlist(str.s, 0, &n_files); |
| | if ( n_files==1 ) |
| | { |
| | int l = str.l; |
| | kputs(".samples",&str); |
| | sample_fname = strdup(str.s); |
| | str.l = l; |
| | kputs(".legend.gz",&str); |
| | legend_fname = strdup(str.s); |
| | str.l = l; |
| | kputs(".hap.gz",&str); |
| | hap_fname = strdup(str.s); |
| | } |
| | else if ( n_files==3 ) |
| | { |
| | if (strlen(files[0]) && strcmp(files[0],".")!=0) hap_fname = strdup(files[0]); |
| | if (strlen(files[1]) && strcmp(files[1],".")!=0) legend_fname = strdup(files[1]); |
| | if (strlen(files[2]) && strcmp(files[2],".")!=0) sample_fname = strdup(files[2]); |
| | } |
| | else |
| | { |
| | error("Error parsing --hapslegendsample filenames: %s\n", args->outfname); |
| | } |
| | for (i=0; i<n_files; i++) free(files[i]); |
| | free(files); |
| |
|
| | if ( hap_fname && (strlen(hap_fname)<3 || strcasecmp(".gz",hap_fname+strlen(hap_fname)-3)) ) hap_compressed = 0; |
| | if ( legend_fname && (strlen(legend_fname)<3 || strcasecmp(".gz",legend_fname+strlen(legend_fname)-3)) ) legend_compressed = 0; |
| | if ( sample_fname && strlen(sample_fname)>3 && strcasecmp(".gz",sample_fname+strlen(sample_fname)-3)==0 ) sample_compressed = 0; |
| |
|
| | if (hap_fname) fprintf(stderr, "Hap file: %s\n", hap_fname); |
| | if (legend_fname) fprintf(stderr, "Legend file: %s\n", legend_fname); |
| | if (sample_fname) fprintf(stderr, "Sample file: %s\n", sample_fname); |
| |
|
| | |
| | if (sample_fname) |
| | { |
| | char *sample2sex = NULL; |
| | if ( args->sex_fname ) sample2sex = init_sample2sex(args->header,args->sex_fname); |
| |
|
| | int i; |
| | BGZF *sout = bgzf_open(sample_fname, sample_compressed ? "wg" : "wu"); |
| | str.l = 0; |
| | kputs("sample population group sex\n", &str); |
| | ret = bgzf_write(sout, str.s, str.l); |
| | if ( ret != str.l ) error("Error writing %s: %s\n", sample_fname, strerror(errno)); |
| | for (i=0; i<bcf_hdr_nsamples(args->header); i++) |
| | { |
| | str.l = 0; |
| | ksprintf(&str, "%s %s %s %c\n", args->header->samples[i], args->header->samples[i], args->header->samples[i], sample2sex ? sample2sex[i] : '2'); |
| | ret = bgzf_write(sout, str.s, str.l); |
| | if ( ret != str.l ) error("Error writing %s: %s\n", sample_fname, strerror(errno)); |
| | } |
| | if ( bgzf_close(sout)!=0 ) error("Error closing %s: %s\n", sample_fname, strerror(errno)); |
| | free(sample_fname); |
| | free(sample2sex); |
| | } |
| | if (!hap_fname && !legend_fname) { |
| | if ( str.m ) free(str.s); |
| | return; |
| | } |
| |
|
| | |
| | BGZF *hout = hap_fname ? bgzf_open(hap_fname, hap_compressed ? "wg" : "wu") : NULL; |
| | if ( hap_compressed && args->n_threads ) bgzf_thread_pool(hout, args->files->p->pool, args->files->p->qsize); |
| | BGZF *lout = legend_fname ? bgzf_open(legend_fname, legend_compressed ? "wg" : "wu") : NULL; |
| | if (legend_fname) { |
| | str.l = 0; |
| | kputs("id position a0 a1\n", &str); |
| | ret = bgzf_write(lout, str.s, str.l); |
| | if ( ret != str.l ) error("Error writing %s: %s\n", legend_fname, strerror(errno)); |
| | } |
| |
|
| | int no_alt = 0, non_biallelic = 0, filtered = 0, nok = 0; |
| | while ( bcf_sr_next_line(args->files) ) |
| | { |
| | bcf1_t *line = bcf_sr_get_line(args->files,0); |
| | if ( args->filter ) |
| | { |
| | int pass = filter_test(args->filter, line, NULL); |
| | if ( args->filter_logic & FLT_EXCLUDE ) pass = pass ? 0 : 1; |
| | if ( !pass ) { filtered++; continue; } |
| | } |
| |
|
| | |
| | if ( line->n_allele<2 ) { no_alt++; continue; } |
| | |
| | if ( line->n_allele>2 ) { |
| | if (!non_biallelic) |
| | fprintf(stderr, "Warning: non-biallelic records are skipped. Consider splitting multi-allelic records into biallelic records using 'bcftools norm -m-'.\n"); |
| | non_biallelic++; |
| | continue; |
| | } |
| |
|
| | str.l = 0; |
| | convert_line(args->convert, line, &str); |
| | if ( !str.l ) continue; |
| |
|
| | |
| | if (hap_fname) { |
| | ret = bgzf_write(hout, str.s, str.l); |
| | if ( ret != str.l ) error("Error writing %s: %s\n", hap_fname, strerror(errno)); |
| | } |
| | if (legend_fname) { |
| | str.l = 0; |
| | if ( args->output_vcf_ids && (line->d.id[0]!='.' || line->d.id[1]!=0) ) |
| | ksprintf(&str, "%s %"PRId64" %s %s\n", line->d.id, (int64_t) line->pos+1, line->d.allele[0], line->d.allele[1]); |
| | else |
| | ksprintf(&str, "%s:%"PRId64"_%s_%s %"PRId64" %s %s\n", bcf_seqname(args->header, line), (int64_t) line->pos+1, line->d.allele[0], line->d.allele[1], (int64_t) line->pos+1, line->d.allele[0], line->d.allele[1]); |
| |
|
| | |
| | ret = bgzf_write(lout, str.s, str.l); |
| | if ( ret != str.l ) error("Error writing %s: %s\n", legend_fname, strerror(errno)); |
| | } |
| | nok++; |
| | } |
| | fprintf(stderr, "%d records written, %d skipped: %d/%d/%d no-ALT/non-biallelic/filtered\n", nok,no_alt+non_biallelic+filtered, no_alt, non_biallelic, filtered); |
| | if ( str.m ) free(str.s); |
| | if ( hout && bgzf_close(hout)!=0 ) error("Error closing %s: %s\n", hap_fname, strerror(errno)); |
| | if ( lout && bgzf_close(lout)!=0 ) error("Error closing %s: %s\n", legend_fname, strerror(errno)); |
| | if (hap_fname) free(hap_fname); |
| | if (legend_fname) free(legend_fname); |
| | } |
| |
|
| | static void vcf_to_hapsample(args_t *args) |
| | { |
| | |
| | |
| | |
| | |
| | |
| | |
| | |
| | |
| | kstring_t str = {0,0,0}; |
| |
|
| | |
| | if ( args->output_vcf_ids ) |
| | kputs("%CHROM:%POS\\_%REF\\_%FIRST_ALT %ID %POS %REF %FIRST_ALT ", &str); |
| | else |
| | kputs("%CHROM %CHROM:%POS\\_%REF\\_%FIRST_ALT %POS %REF %FIRST_ALT ", &str); |
| |
|
| | if ( args->hap2dip ) |
| | kputs("%_GT_TO_HAP2\n", &str); |
| | else |
| | kputs("%_GT_TO_HAP\n", &str); |
| | open_vcf(args,str.s); |
| |
|
| | int ret, hap_compressed = 1, sample_compressed = 0; |
| | char *hap_fname = NULL, *sample_fname = NULL; |
| | str.l = 0; |
| | kputs(args->outfname,&str); |
| | int n_files = 0, i; |
| | char **files = hts_readlist(str.s, 0, &n_files); |
| | if ( n_files==1 ) |
| | { |
| | int l = str.l; |
| | kputs(".samples",&str); |
| | sample_fname = strdup(str.s); |
| | str.l = l; |
| | kputs(".hap.gz",&str); |
| | hap_fname = strdup(str.s); |
| | } |
| | else if ( n_files==2 ) |
| | { |
| | if (strlen(files[0]) && strcmp(files[0],".")!=0) hap_fname = strdup(files[0]); |
| | if (strlen(files[1]) && strcmp(files[1],".")!=0) sample_fname = strdup(files[1]); |
| | } |
| | else |
| | { |
| | error("Error parsing --hapsample filenames: %s\n", args->outfname); |
| | } |
| | for (i=0; i<n_files; i++) free(files[i]); |
| | free(files); |
| |
|
| | if ( hap_fname && (strlen(hap_fname)<3 || strcasecmp(".gz",hap_fname+strlen(hap_fname)-3)) ) hap_compressed = 0; |
| | if ( sample_fname && strlen(sample_fname)>3 && strcasecmp(".gz",sample_fname+strlen(sample_fname)-3)==0 ) sample_compressed = 0; |
| |
|
| | if (hap_fname) fprintf(stderr, "Hap file: %s\n", hap_fname); |
| | if (sample_fname) fprintf(stderr, "Sample file: %s\n", sample_fname); |
| |
|
| | |
| | if (sample_fname) |
| | { |
| | char *sample2sex = NULL; |
| | if ( args->sex_fname ) sample2sex = init_sample2sex(args->header,args->sex_fname); |
| |
|
| | int i; |
| | BGZF *sout = bgzf_open(sample_fname, sample_compressed ? "wg" : "wu"); |
| | str.l = 0; |
| | kputs(sample2sex ? "ID_1 ID_2 missing sex\n0 0 0 0\n" : "ID_1 ID_2 missing\n0 0 0\n", &str); |
| | ret = bgzf_write(sout, str.s, str.l); |
| | if ( ret != str.l ) error("Error writing %s: %s\n", sample_fname, strerror(errno)); |
| | for (i=0; i<bcf_hdr_nsamples(args->header); i++) |
| | { |
| | str.l = 0; |
| | if ( sample2sex ) |
| | ksprintf(&str, "%s %s 0 %c\n", args->header->samples[i],args->header->samples[i],sample2sex[i]); |
| | else |
| | ksprintf(&str, "%s %s 0\n", args->header->samples[i],args->header->samples[i]); |
| | ret = bgzf_write(sout, str.s, str.l); |
| | if ( ret != str.l ) error("Error writing %s: %s\n", sample_fname, strerror(errno)); |
| | } |
| | if ( bgzf_close(sout)!=0 ) error("Error closing %s: %s\n", sample_fname, strerror(errno)); |
| | free(sample_fname); |
| | free(sample2sex); |
| | } |
| | if (!hap_fname) { |
| | if ( str.m ) free(str.s); |
| | return; |
| | } |
| |
|
| | |
| | BGZF *hout = hap_fname ? bgzf_open(hap_fname, hap_compressed ? "wg" : "wu") : NULL; |
| | if ( hap_compressed && args->n_threads ) bgzf_thread_pool(hout, args->files->p->pool, args->files->p->qsize); |
| |
|
| | int no_alt = 0, non_biallelic = 0, filtered = 0, nok = 0; |
| | while ( bcf_sr_next_line(args->files) ) |
| | { |
| | bcf1_t *line = bcf_sr_get_line(args->files,0); |
| | if ( args->filter ) |
| | { |
| | int pass = filter_test(args->filter, line, NULL); |
| | if ( args->filter_logic & FLT_EXCLUDE ) pass = pass ? 0 : 1; |
| | if ( !pass ) { filtered++; continue; } |
| | } |
| |
|
| | |
| | if ( line->n_allele<2 ) { no_alt++; continue; } |
| | |
| | if ( line->n_allele>2 ) { |
| | if (!non_biallelic) |
| | fprintf(stderr, "Warning: non-biallelic records are skipped. Consider splitting multi-allelic records into biallelic records using 'bcftools norm -m-'.\n"); |
| | non_biallelic++; |
| | continue; |
| | } |
| |
|
| | str.l = 0; |
| | convert_line(args->convert, line, &str); |
| | if ( !str.l ) continue; |
| |
|
| | |
| | if (hap_fname) { |
| | ret = bgzf_write(hout, str.s, str.l); |
| | if ( ret != str.l ) error("Error writing %s: %s\n", hap_fname, strerror(errno)); |
| | } |
| | nok++; |
| | } |
| | fprintf(stderr, "%d records written, %d skipped: %d/%d/%d no-ALT/non-biallelic/filtered\n", nok, no_alt+non_biallelic+filtered, no_alt, non_biallelic, filtered); |
| | if ( str.m ) free(str.s); |
| | if ( hout && bgzf_close(hout)!=0 ) error("Error closing %s: %s\n", hap_fname, strerror(errno)); |
| | if (hap_fname) free(hap_fname); |
| | } |
| |
|
| | static void bcf_hdr_set_chrs(bcf_hdr_t *hdr, faidx_t *fai) |
| | { |
| | int i, n = faidx_nseq(fai); |
| | for (i=0; i<n; i++) |
| | { |
| | const char *seq = faidx_iseq(fai,i); |
| | int len = faidx_seq_len(fai, seq); |
| | bcf_hdr_printf(hdr, "##contig=<ID=%s,length=%d>", seq,len); |
| | } |
| | } |
| | static inline int acgt_to_5(char base) |
| | { |
| | if ( base=='A' ) return 0; |
| | if ( base=='C' ) return 1; |
| | if ( base=='G' ) return 2; |
| | if ( base=='T' ) return 3; |
| | return 4; |
| | } |
| | static inline int tsv_setter_aa1(args_t *args, char *ss, char *se, int alleles[], int *nals, int ref, int32_t *gts) |
| | { |
| | if ( se - ss > 2 ) return -1; |
| |
|
| | if ( ss[0]=='-' || ss[0]=='.' ) |
| | { |
| | |
| | gts[0] = bcf_gt_missing; |
| | gts[1] = bcf_gt_missing; |
| | args->n.missing++; |
| | return 0; |
| | } |
| | if ( ss[0]=='I' ) return -2; |
| | if ( ss[0]=='D' ) return -2; |
| |
|
| | int a0 = acgt_to_5(toupper(ss[0])); |
| | int a1 = ss[1] ? acgt_to_5(toupper(ss[1])) : a0; |
| | if ( alleles[a0]<0 ) alleles[a0] = (*nals)++; |
| | if ( alleles[a1]<0 ) alleles[a1] = (*nals)++; |
| |
|
| | gts[0] = bcf_gt_unphased(alleles[a0]); |
| | gts[1] = ss[1] ? bcf_gt_unphased(alleles[a1]) : bcf_int32_vector_end; |
| |
|
| | if ( ref==a0 && ref==a1 ) args->n.hom_rr++; |
| | else if ( ref==a0 ) args->n.het_ra++; |
| | else if ( ref==a1 ) args->n.het_ra++; |
| | else if ( a0==a1 ) args->n.hom_aa++; |
| | else args->n.het_aa++; |
| |
|
| | return 0; |
| | } |
| | static int tsv_setter_aa(tsv_t *tsv, bcf1_t *rec, void *usr) |
| | { |
| | args_t *args = (args_t*) usr; |
| |
|
| | int len; |
| | char *ref = faidx_fetch_seq(args->ref, (char*)bcf_hdr_id2name(args->header,rec->rid), rec->pos, rec->pos, &len); |
| | if ( !ref ) error("faidx_fetch_seq failed at %s:%"PRId64"\n", bcf_hdr_id2name(args->header,rec->rid),(int64_t) rec->pos+1); |
| |
|
| | int nals = 1, alleles[5] = { -1, -1, -1, -1, -1 }; |
| | ref[0] = toupper(ref[0]); |
| | int iref = acgt_to_5(ref[0]); |
| | alleles[iref] = 0; |
| |
|
| | rec->n_sample = bcf_hdr_nsamples(args->header); |
| |
|
| | int i, ret; |
| | for (i=0; i<rec->n_sample; i++) |
| | { |
| | if ( i>0 ) |
| | { |
| | ret = tsv_next(tsv); |
| | if ( ret==-1 ) error("Too few columns for %d samples at %s:%"PRId64"\n", rec->n_sample,bcf_hdr_id2name(args->header,rec->rid),(int64_t) rec->pos+1); |
| | } |
| | ret = tsv_setter_aa1(args, tsv->ss, tsv->se, alleles, &nals, iref, args->gts+i*2); |
| | if ( ret==-1 ) error("Error parsing the site %s:%"PRId64", expected two characters\n", bcf_hdr_id2name(args->header,rec->rid),(int64_t) rec->pos+1); |
| | if ( ret==-2 ) |
| | { |
| | |
| | free(ref); |
| | return -1; |
| | } |
| | } |
| |
|
| | args->str.l = 0; |
| | kputc(ref[0], &args->str); |
| | for (i=0; i<5; i++) |
| | { |
| | if ( alleles[i]>0 ) |
| | { |
| | kputc(',', &args->str); |
| | kputc("ACGTN"[i], &args->str); |
| | } |
| | } |
| | bcf_update_alleles_str(args->header, rec, args->str.s); |
| | if ( bcf_update_genotypes(args->header,rec,args->gts,rec->n_sample*2) ) error("Could not update the GT field\n"); |
| |
|
| | free(ref); |
| | return 0; |
| | } |
| |
|
| | static void tsv_to_vcf(args_t *args) |
| | { |
| | if ( !args->ref_fname ) error("--tsv2vcf requires the --fasta-ref option\n"); |
| |
|
| | args->ref = fai_load(args->ref_fname); |
| | if ( !args->ref ) error("Could not load the reference %s\n", args->ref_fname); |
| |
|
| | args->header = bcf_hdr_init("w"); |
| | bcf_hdr_set_chrs(args->header, args->ref); |
| | bcf_hdr_append(args->header, "##FORMAT=<ID=GT,Number=1,Type=String,Description=\"Genotype\">"); |
| | if (args->record_cmd_line) bcf_hdr_append_version(args->header, args->argc, args->argv, "bcftools_convert"); |
| |
|
| | int i, nsmpl; |
| | char **smpl; |
| | if ( args->sample_list ) |
| | { |
| | smpl = hts_readlist(args->sample_list, args->sample_is_file, &nsmpl); |
| | if ( !smpl ) error("Could not parse %s\n", args->sample_list); |
| | for (i=0; i<nsmpl; i++) |
| | { |
| | bcf_hdr_add_sample(args->header, smpl[i]); |
| | free(smpl[i]); |
| | } |
| | free(smpl); |
| | bcf_hdr_add_sample(args->header, NULL); |
| | args->gts = (int32_t *) malloc(sizeof(int32_t)*nsmpl*2); |
| | } |
| |
|
| | char wmode[8]; |
| | set_wmode(wmode,args->output_type,args->outfname,args->clevel); |
| | htsFile *out_fh = hts_open(args->outfname ? args->outfname : "-", wmode); |
| | if ( out_fh == NULL ) error("Can't write to \"%s\": %s\n", args->outfname, strerror(errno)); |
| | if ( args->n_threads ) hts_set_threads(out_fh, args->n_threads); |
| | if ( bcf_hdr_write(out_fh,args->header)!=0 ) error("[%s] Error: cannot write to %s\n", __func__,args->outfname); |
| | if ( args->write_index && init_index(out_fh,args->header,args->outfname,&args->index_fn)<0 ) error("Error: failed to initialise index for %s\n",args->outfname); |
| |
|
| | tsv_t *tsv = tsv_init(args->columns ? args->columns : "ID,CHROM,POS,AA"); |
| | if ( tsv_register(tsv, "CHROM", tsv_setter_chrom, args->header) < 0 ) error("Expected CHROM column\n"); |
| | if ( tsv_register(tsv, "POS", tsv_setter_pos, NULL) < 0 ) error("Expected POS column\n"); |
| | if ( tsv_register(tsv, "ID", tsv_setter_id, args->header) < 0 && !args->columns ) error("Expected ID column\n"); |
| | if ( tsv_register(tsv, "AA", tsv_setter_aa, args) < 0 ) |
| | { |
| | if ( args->sample_list ) error("Expected AA column with -s/-S\n"); |
| | if ( tsv_register(tsv, "REF", tsv_setter_ref, args) < 0 || tsv_register(tsv, "ALT", tsv_setter_alt, args) < 0 ) |
| | error("Expected REF and ALT columns when AA was not given\n"); |
| | } |
| |
|
| | bcf1_t *rec = bcf_init(); |
| | bcf_float_set_missing(rec->qual); |
| |
|
| | kstring_t line = {0,0,0}; |
| | htsFile *in_fh = hts_open(args->infname, "r"); |
| | if ( !in_fh ) error("Could not read: %s\n", args->infname); |
| | while ( hts_getline(in_fh, KS_SEP_LINE, &line) > 0 ) |
| | { |
| | if ( line.s[0]=='#' ) continue; |
| | bcf_clear(rec); |
| |
|
| | args->n.total++; |
| | if ( !tsv_parse(tsv, rec, line.s) ) |
| | { |
| | if ( bcf_write(out_fh, args->header, rec)!=0 ) error("[%s] Error: cannot write to %s\n", __func__,args->outfname); |
| | args->n.written++; |
| | } |
| | else |
| | args->n.skipped++; |
| | } |
| | if ( hts_close(in_fh) ) error("Close failed: %s\n", args->infname); |
| | free(line.s); |
| |
|
| | if ( args->write_index ) |
| | { |
| | if ( bcf_idx_save(out_fh)<0 ) |
| | { |
| | if ( hts_close(out_fh) ) error("Close failed: %s\n", args->outfname); |
| | error("Error: cannot write to index %s\n", args->index_fn); |
| | } |
| | free(args->index_fn); |
| | } |
| | bcf_hdr_destroy(args->header); |
| | if ( hts_close(out_fh)!=0 ) error("[%s] Error: close failed .. %s\n", __func__,args->outfname); |
| | tsv_destroy(tsv); |
| | bcf_destroy(rec); |
| | free(args->str.s); |
| | free(args->gts); |
| | free(args->tsv.ref.s); |
| | free(args->tsv.alt.s); |
| | free(args->tsv.refalt.s); |
| |
|
| | fprintf(stderr,"Rows total: \t%d\n", args->n.total); |
| | fprintf(stderr,"Rows skipped: \t%d\n", args->n.skipped); |
| | fprintf(stderr,"Sites written: \t%d\n", args->n.written); |
| | if ( args->sample_list ) |
| | { |
| | fprintf(stderr,"Missing GTs: \t%d\n", args->n.missing); |
| | fprintf(stderr,"Hom RR: \t%d\n", args->n.hom_rr); |
| | fprintf(stderr,"Het RA: \t%d\n", args->n.het_ra); |
| | fprintf(stderr,"Hom AA: \t%d\n", args->n.hom_aa); |
| | fprintf(stderr,"Het AA: \t%d\n", args->n.het_aa); |
| | } |
| | } |
| |
|
| | static void vcf_to_vcf(args_t *args) |
| | { |
| | open_vcf(args,NULL); |
| | char wmode[8]; |
| | set_wmode(wmode,args->output_type,args->outfname,args->clevel); |
| | htsFile *out_fh = hts_open(args->outfname ? args->outfname : "-", wmode); |
| | if ( out_fh == NULL ) error("Can't write to \"%s\": %s\n", args->outfname, strerror(errno)); |
| | if ( args->n_threads ) hts_set_threads(out_fh, args->n_threads); |
| |
|
| | bcf_hdr_t *hdr = bcf_sr_get_header(args->files,0); |
| | if ( bcf_hdr_write(out_fh,hdr)!=0 ) error("[%s] Error: cannot write to %s\n", __func__,args->outfname); |
| | if ( args->write_index && init_index(out_fh,args->header,args->outfname,&args->index_fn)<0 ) error("Error: failed to initialise index for %s\n",args->outfname); |
| |
|
| | while ( bcf_sr_next_line(args->files) ) |
| | { |
| | bcf1_t *line = bcf_sr_get_line(args->files,0); |
| | if ( args->filter ) |
| | { |
| | int pass = filter_test(args->filter, line, NULL); |
| | if ( args->filter_logic & FLT_EXCLUDE ) pass = pass ? 0 : 1; |
| | if ( !pass ) continue; |
| | } |
| | if ( bcf_write(out_fh,hdr,line)!=0 ) error("[%s] Error: cannot write to %s\n", __func__,args->outfname); |
| | } |
| | if ( args->write_index ) |
| | { |
| | if ( bcf_idx_save(out_fh)<0 ) |
| | { |
| | if ( hts_close(out_fh) ) error("Close failed: %s\n", args->outfname); |
| | error("Error: cannot write to index %s\n", args->index_fn); |
| | } |
| | free(args->index_fn); |
| | } |
| | if ( hts_close(out_fh)!=0 ) error("[%s] Error: close failed .. %s\n", __func__,args->outfname); |
| | } |
| |
|
| | static void gvcf_to_vcf(args_t *args) |
| | { |
| | if ( !args->ref_fname ) error("--gvcf2vcf requires the --fasta-ref option\n"); |
| |
|
| | args->ref = fai_load(args->ref_fname); |
| | if ( !args->ref ) error("Could not load the fai index for reference %s\n", args->ref_fname); |
| |
|
| | open_vcf(args,NULL); |
| | char wmode[8]; |
| | set_wmode(wmode,args->output_type,args->outfname,args->clevel); |
| | htsFile *out_fh = hts_open(args->outfname ? args->outfname : "-", wmode); |
| | if ( out_fh == NULL ) error("Can't write to \"%s\": %s\n", args->outfname, strerror(errno)); |
| | if ( args->n_threads ) hts_set_threads(out_fh, args->n_threads); |
| |
|
| | bcf_hdr_t *hdr = bcf_sr_get_header(args->files,0); |
| | if (args->record_cmd_line) bcf_hdr_append_version(hdr, args->argc, args->argv, "bcftools_convert"); |
| | if ( bcf_hdr_write(out_fh,hdr)!=0 ) error("[%s] Error: cannot write to %s\n", __func__,args->outfname); |
| | if ( args->write_index && init_index(out_fh,hdr,args->outfname,&args->index_fn)<0 ) error("Error: failed to initialise index for %s\n",args->outfname); |
| |
|
| | int32_t *itmp = NULL, nitmp = 0; |
| |
|
| | while ( bcf_sr_next_line(args->files) ) |
| | { |
| | bcf1_t *line = bcf_sr_get_line(args->files,0); |
| | if ( args->filter ) |
| | { |
| | int pass = filter_test(args->filter, line, NULL); |
| | if ( args->filter_logic & FLT_EXCLUDE ) pass = pass ? 0 : 1; |
| | if ( !pass ) |
| | { |
| | if ( bcf_write(out_fh,hdr,line)!=0 ) error("[%s] Error: cannot write to %s\n", __func__,args->outfname); |
| | continue; |
| | } |
| | } |
| |
|
| | |
| | |
| | |
| | int i, gallele = -1; |
| | if (line->n_allele==1) |
| | gallele = 0; |
| | else if ( line->d.allele[1][0]=='<' ) |
| | { |
| | for (i=1; i<line->n_allele; i++) |
| | { |
| | if ( line->d.allele[i][1]=='*' && line->d.allele[i][2]=='>' && line->d.allele[i][3]=='\0' ) { gallele = i; break; } |
| | if ( line->d.allele[i][1]=='X' && line->d.allele[i][2]=='>' && line->d.allele[i][3]=='\0' ) { gallele = i; break; } |
| | if ( strcmp(line->d.allele[i],"<NON_REF>")==0 ) { gallele = i; break; } |
| | } |
| | } |
| |
|
| | |
| | if (gallele<0) |
| | { |
| | if ( bcf_write(out_fh,hdr,line)!=0 ) error("[%s] Error: cannot write to %s\n", __func__,args->outfname); |
| | continue; |
| | } |
| |
|
| | int nend = bcf_get_info_int32(hdr,line,"END",&itmp,&nitmp); |
| | if ( nend!=1 ) |
| | { |
| | |
| | if ( bcf_write(out_fh,hdr,line)!=0 ) error("[%s] Error: cannot write to %s\n", __func__,args->outfname); |
| | continue; |
| | } |
| | bcf_update_info_int32(hdr,line,"END",NULL,0); |
| | int pos, len; |
| | for (pos=line->pos; pos<itmp[0]; pos++) |
| | { |
| | line->pos = pos; |
| | char *ref = faidx_fetch_seq(args->ref, (char*)bcf_hdr_id2name(hdr,line->rid), line->pos, line->pos, &len); |
| | if ( !ref ) error("faidx_fetch_seq failed at %s:%"PRId64"\n", bcf_hdr_id2name(hdr,line->rid),(int64_t) line->pos+1); |
| | strncpy(line->d.allele[0],ref,len); |
| | if ( bcf_write(out_fh,hdr,line)!=0 ) error("[%s] Error: cannot write to %s\n", __func__,args->outfname); |
| | free(ref); |
| | } |
| | } |
| | free(itmp); |
| | if ( args->write_index ) |
| | { |
| | if ( bcf_idx_save(out_fh)<0 ) |
| | { |
| | if ( hts_close(out_fh) ) error("Close failed: %s\n", args->outfname); |
| | error("Error: cannot write to index %s\n", args->index_fn); |
| | } |
| | free(args->index_fn); |
| | } |
| | if ( hts_close(out_fh)!=0 ) error("[%s] Error: close failed .. %s\n", __func__,args->outfname); |
| | } |
| |
|
| | static void usage(void) |
| | { |
| | fprintf(stderr, "\n"); |
| | fprintf(stderr, "About: Converts VCF/BCF to other formats and back. See man page for file\n"); |
| | fprintf(stderr, " formats details. When specifying output files explicitly instead\n"); |
| | fprintf(stderr, " of with PREFIX, one can use '-' for stdout and '.' to suppress.\n"); |
| | fprintf(stderr, "Usage: bcftools convert [OPTIONS] INPUT_FILE\n"); |
| | fprintf(stderr, "\n"); |
| | fprintf(stderr, "VCF input options:\n"); |
| | fprintf(stderr, " -e, --exclude EXPR Exclude sites for which the expression is true\n"); |
| | fprintf(stderr, " -i, --include EXPR Select sites for which the expression is true\n"); |
| | fprintf(stderr, " -r, --regions REGION Restrict to comma-separated list of regions\n"); |
| | fprintf(stderr, " -R, --regions-file FILE Restrict to regions listed in a file\n"); |
| | fprintf(stderr, " --regions-overlap 0|1|2 Include if POS in the region (0), record overlaps (1), variant overlaps (2) [1]\n"); |
| | fprintf(stderr, " -s, --samples LIST List of samples to include\n"); |
| | fprintf(stderr, " -S, --samples-file FILE File of samples to include\n"); |
| | fprintf(stderr, " -t, --targets REGION Similar to -r but streams rather than index-jumps\n"); |
| | fprintf(stderr, " -T, --targets-file FILE Similar to -R but streams rather than index-jumps\n"); |
| | fprintf(stderr, " --targets-overlap 0|1|2 Include if POS in the region (0), record overlaps (1), variant overlaps (2) [0]\n"); |
| | fprintf(stderr, "\n"); |
| | fprintf(stderr, "VCF output options:\n"); |
| | fprintf(stderr, " --no-version Do not append version and command line to the header\n"); |
| | fprintf(stderr, " -o, --output FILE Output file name [stdout]\n"); |
| | fprintf(stderr, " -O, --output-type u|b|v|z[0-9] u/b: un/compressed BCF, v/z: un/compressed VCF, 0-9: compression level [v]\n"); |
| | fprintf(stderr, " --threads INT Use multithreading with INT worker threads [0]\n"); |
| | fprintf(stderr, " --write-index Automatically index the output files [off]\n"); |
| | fprintf(stderr, "\n"); |
| | fprintf(stderr, "GEN/SAMPLE conversion (input/output from IMPUTE2):\n"); |
| | fprintf(stderr, " -G, --gensample2vcf ... <PREFIX>|<GEN-FILE>,<SAMPLE-FILE>\n"); |
| | fprintf(stderr, " -g, --gensample ... <PREFIX>|<GEN-FILE>,<SAMPLE-FILE>\n"); |
| | fprintf(stderr, " --3N6 Use 3*N+6 column format instead of the old 3*N+5 column format\n"); |
| | fprintf(stderr, " --tag STRING Tag to take values for .gen file: GT,PL,GL,GP [GT]\n"); |
| | fprintf(stderr, " --chrom Output chromosome in first column instead of CHROM:POS_REF_ALT\n"); |
| | fprintf(stderr, " --keep-duplicates Keep duplicate positions\n"); |
| | fprintf(stderr, " --sex FILE Output sex column in the sample-file, input format is: Sample\\t[MF]\n"); |
| | fprintf(stderr, " --vcf-ids Output VCF IDs in second column instead of CHROM:POS_REF_ALT\n"); |
| | fprintf(stderr, "\n"); |
| | fprintf(stderr, "gVCF conversion:\n"); |
| | fprintf(stderr, " --gvcf2vcf Expand gVCF reference blocks\n"); |
| | fprintf(stderr, " -f, --fasta-ref FILE Reference sequence in fasta format\n"); |
| | fprintf(stderr, "\n"); |
| | fprintf(stderr, "HAP/SAMPLE conversion (output from SHAPEIT):\n"); |
| | fprintf(stderr, " --hapsample2vcf ... <PREFIX>|<HAP-FILE>,<SAMPLE-FILE>\n"); |
| | fprintf(stderr, " --hapsample ... <PREFIX>|<HAP-FILE>,<SAMPLE-FILE>\n"); |
| | fprintf(stderr, " --haploid2diploid Convert haploid genotypes to diploid homozygotes\n"); |
| | fprintf(stderr, " --sex FILE Output sex column in the sample-file, input format is: Sample\\t[MF]\n"); |
| | fprintf(stderr, " --vcf-ids Output VCF IDs instead of CHROM:POS_REF_ALT\n"); |
| | fprintf(stderr, "\n"); |
| | fprintf(stderr, "HAP/LEGEND/SAMPLE conversion:\n"); |
| | fprintf(stderr, " -H, --haplegendsample2vcf ... <PREFIX>|<HAP-FILE>,<LEGEND-FILE>,<SAMPLE-FILE>\n"); |
| | fprintf(stderr, " -h, --haplegendsample ... <PREFIX>|<HAP-FILE>,<LEGEND-FILE>,<SAMPLE-FILE>\n"); |
| | fprintf(stderr, " --haploid2diploid Convert haploid genotypes to diploid homozygotes\n"); |
| | fprintf(stderr, " --sex FILE Output sex column in the sample-file, input format is: Sample\\t[MF]\n"); |
| | fprintf(stderr, " --vcf-ids Output VCF IDs instead of CHROM:POS_REF_ALT\n"); |
| | fprintf(stderr, "\n"); |
| | fprintf(stderr, "TSV conversion:\n"); |
| | fprintf(stderr, " --tsv2vcf FILE\n"); |
| | fprintf(stderr, " -c, --columns STRING Columns of the input tsv file, see man page for details [ID,CHROM,POS,AA]\n"); |
| | fprintf(stderr, " -f, --fasta-ref FILE Reference sequence in fasta format\n"); |
| | fprintf(stderr, " -s, --samples LIST List of sample names\n"); |
| | fprintf(stderr, " -S, --samples-file FILE File of sample names\n"); |
| | fprintf(stderr, "\n"); |
| | |
| | |
| | |
| | |
| | |
| | |
| | |
| | |
| | exit(1); |
| | } |
| |
|
| | int main_vcfconvert(int argc, char *argv[]) |
| | { |
| | int c; |
| | args_t *args = (args_t*) calloc(1,sizeof(args_t)); |
| | args->argc = argc; args->argv = argv; |
| | args->outfname = "-"; |
| | args->output_type = FT_VCF; |
| | args->n_threads = 0; |
| | args->record_cmd_line = 1; |
| | args->regions_overlap = 1; |
| | args->targets_overlap = 0; |
| | args->clevel = -1; |
| |
|
| | static struct option loptions[] = |
| | { |
| | {"include",required_argument,NULL,'i'}, |
| | {"exclude",required_argument,NULL,'e'}, |
| | {"output",required_argument,NULL,'o'}, |
| | {"output-type",required_argument,NULL,'O'}, |
| | {"threads",required_argument,NULL,9}, |
| | {"regions",required_argument,NULL,'r'}, |
| | {"regions-file",required_argument,NULL,'R'}, |
| | {"regions-overlap",required_argument,NULL,13}, |
| | {"targets",required_argument,NULL,'t'}, |
| | {"targets-file",required_argument,NULL,'T'}, |
| | {"targets-overlap",required_argument,NULL,14}, |
| | {"samples",required_argument,NULL,'s'}, |
| | {"samples-file",required_argument,NULL,'S'}, |
| | {"sex",required_argument,NULL,11}, |
| | {"gensample",required_argument,NULL,'g'}, |
| | {"gensample2vcf",required_argument,NULL,'G'}, |
| | {"tag",required_argument,NULL,1}, |
| | {"chrom",no_argument,NULL,8}, |
| | {"3N6",no_argument,NULL,15}, |
| | {"tsv2vcf",required_argument,NULL,2}, |
| | {"hapsample",required_argument,NULL,7}, |
| | {"hapsample2vcf",required_argument,NULL,3}, |
| | {"vcf-ids",no_argument,NULL,4}, |
| | {"haploid2diploid",no_argument,NULL,5}, |
| | {"gvcf2vcf",no_argument,NULL,6}, |
| | {"haplegendsample",required_argument,NULL,'h'}, |
| | {"haplegendsample2vcf",required_argument,NULL,'H'}, |
| | {"columns",required_argument,NULL,'c'}, |
| | {"fasta-ref",required_argument,NULL,'f'}, |
| | {"no-version",no_argument,NULL,10}, |
| | {"keep-duplicates",no_argument,NULL,12}, |
| | {"write-index",no_argument,NULL,16}, |
| | {NULL,0,NULL,0} |
| | }; |
| | char *tmp; |
| | while ((c = getopt_long(argc, argv, "?h:r:R:s:S:t:T:i:e:g:G:o:O:c:f:H:",loptions,NULL)) >= 0) { |
| | switch (c) { |
| | case 'e': |
| | if ( args->filter_str ) error("Error: only one -i or -e expression can be given, and they cannot be combined\n"); |
| | args->filter_str = optarg; args->filter_logic |= FLT_EXCLUDE; break; |
| | case 'i': |
| | if ( args->filter_str ) error("Error: only one -i or -e expression can be given, and they cannot be combined\n"); |
| | args->filter_str = optarg; args->filter_logic |= FLT_INCLUDE; break; |
| | case 'r': args->regions_list = optarg; break; |
| | case 'R': args->regions_list = optarg; args->regions_is_file = 1; break; |
| | case 't': args->targets_list = optarg; break; |
| | case 'T': args->targets_list = optarg; args->targets_is_file = 1; break; |
| | case 's': args->sample_list = optarg; break; |
| | case 'S': args->sample_list = optarg; args->sample_is_file = 1; break; |
| | case 'g': args->convert_func = vcf_to_gensample; args->outfname = optarg; break; |
| | case 'G': args->convert_func = gensample_to_vcf; args->infname = optarg; break; |
| | case 1 : args->tag = optarg; break; |
| | case 2 : args->convert_func = tsv_to_vcf; args->infname = optarg; break; |
| | case 3 : args->convert_func = hapsample_to_vcf; args->infname = optarg; break; |
| | case 4 : args->output_vcf_ids = 1; break; |
| | case 5 : args->hap2dip = 1; break; |
| | case 6 : args->convert_func = gvcf_to_vcf; break; |
| | case 7 : args->convert_func = vcf_to_hapsample; args->outfname = optarg; break; |
| | case 8 : error("The --chrom option has been deprecated, please use --3N6 instead\n"); break; |
| | case 15 : args->gen_3N6 = 1; break; |
| | case 16 : args->write_index = 1; break; |
| | case 'H': args->convert_func = haplegendsample_to_vcf; args->infname = optarg; break; |
| | case 'f': args->ref_fname = optarg; break; |
| | case 'c': args->columns = optarg; break; |
| | case 'o': args->outfname = optarg; break; |
| | case 'O': |
| | switch (optarg[0]) { |
| | case 'b': args->output_type = FT_BCF_GZ; break; |
| | case 'u': args->output_type = FT_BCF; break; |
| | case 'z': args->output_type = FT_VCF_GZ; break; |
| | case 'v': args->output_type = FT_VCF; break; |
| | default: |
| | { |
| | args->clevel = strtol(optarg,&tmp,10); |
| | if ( *tmp || args->clevel<0 || args->clevel>9 ) error("The output type \"%s\" not recognised\n", optarg); |
| | } |
| | } |
| | if ( optarg[1] ) |
| | { |
| | args->clevel = strtol(optarg+1,&tmp,10); |
| | if ( *tmp || args->clevel<0 || args->clevel>9 ) error("Could not parse argument: --compression-level %s\n", optarg+1); |
| | } |
| | break; |
| | case 'h': args->convert_func = vcf_to_haplegendsample; args->outfname = optarg; break; |
| | case 9 : args->n_threads = strtol(optarg, 0, 0); break; |
| | case 10 : args->record_cmd_line = 0; break; |
| | case 11 : args->sex_fname = optarg; break; |
| | case 12 : args->keep_duplicates = 1; break; |
| | case 13 : |
| | args->regions_overlap = parse_overlap_option(optarg); |
| | if ( args->regions_overlap < 0 ) error("Could not parse: --regions-overlap %s\n",optarg); |
| | break; |
| | case 14 : |
| | args->targets_overlap = parse_overlap_option(optarg); |
| | if ( args->targets_overlap < 0 ) error("Could not parse: --targets-overlap %s\n",optarg); |
| | break; |
| | case '?': usage(); break; |
| | default: error("Unknown argument: %s\n", optarg); |
| | } |
| | } |
| |
|
| | if ( !args->infname ) |
| | { |
| | if ( optind>=argc ) |
| | { |
| | if ( !isatty(fileno((FILE *)stdin)) ) args->infname = "-"; |
| | } |
| | else args->infname = argv[optind]; |
| | } |
| | if ( !args->infname ) usage(); |
| |
|
| | if ( args->convert_func ) args->convert_func(args); |
| | else vcf_to_vcf(args); |
| |
|
| | destroy_data(args); |
| | free(args); |
| | return 0; |
| | } |
| |
|