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Tags:
population-genetics
demographic-inference
effective-population-size
coalescent
msprime
simulation
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31.3 kB
| from __future__ import annotations | |
| import math | |
| from dataclasses import dataclass | |
| from numbers import Integral, Real | |
| from pathlib import Path | |
| SOURCE_IDS = { | |
| "clean_constant_map": 0, | |
| "random_global_mu_r": 1, | |
| "custom_heterogeneous": 2, | |
| "empirical_map_slice": 3, | |
| "stdpopsim_anchor": 4, | |
| } | |
| DEMOGRAPHY_TYPE_IDS = { | |
| # The public, scientific label for a row, coarser than the recipe that drew | |
| # it. Four labels went when their recipes did -- exponential growth and | |
| # decline, three-epoch and serial founder are all things the continuous | |
| # event samplers produce, and which of them a row *is* depends on the | |
| # trajectory rather than on which sampler ran, so it is resolved per row. | |
| "constant": 0, | |
| "random_walk": 1, | |
| "bottleneck": 2, | |
| "expansion": 3, | |
| "contraction": 4, | |
| "zigzag": 5, | |
| "empirical_human_ne_template": 6, | |
| "stdpopsim": 7, | |
| } | |
| ID_TO_DEMOGRAPHY_TYPE = {v: k for k, v in DEMOGRAPHY_TYPE_IDS.items()} | |
| # Append-only recipe IDs preserve the exact generator provenance used by older | |
| # datasets, where these values were stored as ``demography_id``. | |
| GENERATOR_RECIPE_IDS = { | |
| # The recipe a row was drawn from. Ids are dense and start at zero: they | |
| # name a sampler in this generator, not a position in its history, and a | |
| # dataset written before a change is refused by its schema version long | |
| # before any id is read. | |
| "constant": 0, | |
| "spectral_walk": 1, | |
| "size_event": 2, | |
| "bottleneck": 3, | |
| "multi_event": 4, | |
| "event_on_background": 5, | |
| "ooa_chain": 6, | |
| "exponential": 7, | |
| "sawtooth": 8, | |
| "literature_sawtooth": 9, | |
| "empirical_human_ne_template": 10, | |
| "stdpopsim_single_pop": 11, | |
| "stdpopsim": 12, | |
| } | |
| ID_TO_GENERATOR_RECIPE = {v: k for k, v in GENERATOR_RECIPE_IDS.items()} | |
| # ``None`` marks recipes whose public type depends on the sampled trajectory. | |
| GENERATOR_RECIPE_TO_DEMOGRAPHY_TYPE: dict[str, str | None] = { | |
| # ``None`` marks a recipe whose public label is a property of the drawn | |
| # trajectory rather than of the sampler: a size change is an expansion or a | |
| # contraction depending on its sign. | |
| "constant": "constant", | |
| "spectral_walk": "random_walk", | |
| "size_event": None, | |
| "bottleneck": "bottleneck", | |
| "multi_event": None, | |
| "event_on_background": None, | |
| "ooa_chain": "bottleneck", | |
| "exponential": None, | |
| "sawtooth": "zigzag", | |
| "literature_sawtooth": "zigzag", | |
| "empirical_human_ne_template": "empirical_human_ne_template", | |
| "stdpopsim_single_pop": "stdpopsim", | |
| "stdpopsim": "stdpopsim", | |
| } | |
| HISTORY_FAMILY_BY_DEMOGRAPHY_TYPE = { | |
| "constant": "stable", | |
| "random_walk": "free_form", | |
| "bottleneck": "single_pulse", | |
| "exponential_growth": "monotonic_change", | |
| "exponential_decline": "monotonic_change", | |
| "expansion": "monotonic_change", | |
| "contraction": "monotonic_change", | |
| "three_epoch": "compound_events", | |
| "serial_founder": "compound_events", | |
| "zigzag": "oscillatory", | |
| "empirical_human_ne_template": "free_form", | |
| "stdpopsim": "external_model", | |
| } | |
| GENERATOR_RECIPE_HISTORY_FAMILY_OVERRIDES = { | |
| # Keep the strict ``constant`` public label uncontaminated while still | |
| # recognizing the near-constant control as part of the stable family. | |
| "near_constant": "stable", | |
| } | |
| # deCODE 2019 (Halldorsson et al., Science 363:eaau1043): 4,531,535 localised | |
| # crossovers, average map resolution 682 bp, native GRCh38. It replaces the | |
| # Palsson 2025 table, which is published in 1 Mb windows and so holds nothing | |
| # at the scale that breaks haplotype tracts -- its crossover column is this | |
| # same map re-binned. Kept beside it for the megabase-scale non-crossover | |
| # information, which is a different quantity. | |
| # Paths are resolved against ``simulator/assets`` first and the working | |
| # directory second, so an installed copy finds its own data from anywhere. | |
| DEFAULT_RECOMB_MAP = "maps/decode2019_avg_hg38.bed" | |
| DEFAULT_MUT_MAP = "maps/roulette_2023_autosomes_hg38_1000bp.bed" | |
| SOURCE_PROB_FIELDS = ( | |
| "p_clean_constant", | |
| "p_random_global", | |
| "p_custom_hetero", | |
| "p_empirical_slice", | |
| "p_stdpopsim_anchor", | |
| ) | |
| EMPIRICAL_NE_SOURCE_KEYS = frozenset( | |
| { | |
| "smcpp_1kg", | |
| "phlash_unified", | |
| "phlash_super", | |
| "msmc2_example", | |
| "msmc_im_example", | |
| } | |
| ) | |
| DEMOGRAPHY_PROB_FIELDS = ( | |
| "p_constant", | |
| "p_spectral_walk", | |
| "p_size_event", | |
| "p_multi_event", | |
| "p_exponential", | |
| "p_sawtooth", | |
| "p_literature_sawtooth", | |
| "p_bottleneck", | |
| "p_event_on_background", | |
| "p_ooa_chain", | |
| "p_empirical_human_ne_template", | |
| "p_stdpopsim_single_pop", | |
| ) | |
| UINT32_MAX = 2**32 - 1 | |
| INT16_MAX = 2**15 - 1 | |
| FLOAT32_MAX = float.fromhex("0x1.fffffep+127") | |
| FLOAT32_MIN_POSITIVE = 2.0**-149 | |
| MAX_MSPRIME_RATE = 1.0e-4 | |
| MAX_SYNTHETIC_RATE_MULTIPLIER = 200.0 | |
| # Effective size bounds, declared here instead of at twenty clip sites. | |
| # | |
| # The anchor is the project's own real data: ``_empirical_human_ne_template`` | |
| # draws its curves from smc++ and phlash run on 1000 Genomes, and measured over | |
| # 1,500 draws its support is log10 Ne 2.963 to 5.711. The regular bound leaves | |
| # roughly an order of magnitude on each side of that -- a hundred individuals | |
| # below, a million above -- which is also exactly the support the samplers | |
| # already produced between them, so the distribution is unchanged and only the | |
| # reason for it becomes explicit. | |
| # | |
| # Before this, twenty clip sites used at least five different pairs: 2.7 with | |
| # an upper end of 5.7, 5.85 or 5.9 depending on which walk it was, and 200 to | |
| # 500,000 or 100 to 1,000,000 for the event samplers. Different samplers | |
| # therefore had different supports, and since each has a characteristic curve | |
| # shape that is a correspondence between shape and range which holds in this | |
| # generator and nowhere in biology. | |
| # | |
| # Stress samplers keep a wider band on purpose. That is a design choice rather | |
| # than an accident, so it is named, and every sample records which band it used. | |
| NE_LOG10_BOUNDS = (2.0, 6.0) | |
| NE_LOG10_STRESS_BOUNDS = (1.7, 6.3) | |
| NE_BOUNDS = (10.0 ** NE_LOG10_BOUNDS[0], 10.0 ** NE_LOG10_BOUNDS[1]) | |
| NE_STRESS_BOUNDS = (10.0 ** NE_LOG10_STRESS_BOUNDS[0], 10.0 ** NE_LOG10_STRESS_BOUNDS[1]) | |
| MAX_BASELINE_RATE = MAX_MSPRIME_RATE / MAX_SYNTHETIC_RATE_MULTIPLIER | |
| class Config: | |
| dataset_name: str = "DLCoalSim-Core-v0.1" | |
| preset: str = "mini" | |
| out_dir: str = "./DLCoalSim-Out" | |
| seed: int = 12345 | |
| force: bool = False | |
| demography_mixture_version: str = "v1" | |
| n_samples: int = 2000 | |
| shard_size: int = 64 | |
| compute_chunk_size: int = 16 | |
| seq_len: int = 1_000_000 | |
| n_haplotypes: int = 32 | |
| # Supervised target resolution. Nothing about the latent history depends | |
| # on it: histories are continuous functions of time, discretised only far | |
| # enough to represent them, so the label grid can move without moving the | |
| # ground truth or the random-number stream. | |
| time_bins: int = 64 | |
| # How much log10 Ne error the piecewise-constant representation of a | |
| # continuous history may carry. A flat history costs one epoch and a rough | |
| # one costs as many as it needs; msprime's cost is flat in epoch count, so | |
| # this buys fidelity against metadata size and simulation time. | |
| # | |
| # It is set by the finest statistic the label carries, not by its RMSE. The | |
| # amplitude and total variation of the mixture have both converged by 0.02, | |
| # and the label RMSE against an exact representation is 0.0001 there -- but | |
| # half of all adjacent-bin steps in the label are smaller than 0.02, so a | |
| # tolerance that size erases turning points: the median spectral walk turns | |
| # 5 times at 0.05, 7 at 0.02, and 9 at 0.005 and below, and 9 is the human | |
| # anchor the mixture is built against. Costs 70 ms and 12.6 kB per row | |
| # against 186 s of simulation, so the tail of the sweep is affordable and | |
| # the body of it is not worth saving. | |
| demography_resolution_log10: float = 0.005 | |
| min_time: float = 50.0 | |
| max_time: float = 500_000.0 | |
| baseline_mu: float = 1.25e-8 | |
| baseline_rec: float = 1.0e-8 | |
| p_clean_constant: float = 0.25 | |
| p_random_global: float = 0.20 | |
| p_custom_hetero: float = 0.35 | |
| p_empirical_slice: float = 0.20 | |
| p_stdpopsim_anchor: float = 0.00 | |
| # The demography mixture. Two rules shape it. First, an axis that is | |
| # continuous in nature is one sampler with a continuous parameter, not | |
| # several samplers pinned to points along it -- the previous mixture had | |
| # 27 named recipes and a measured pairwise separability as low as 0.283 | |
| # against a 0.500 chance rate. Second, training weight and evaluation | |
| # weight are different things: the last three entries are histories other | |
| # people published, and rows drawn from them carry | |
| # ``held_out_evaluation`` or ``literature_demography_anchor`` so a split | |
| # can keep them out of the training gradient. | |
| # Weights were set against a measured quantity rather than a feeling: for | |
| # each recipe, the share of its rows whose label standard deviation is | |
| # under 0.24 -- the level every architecture arm sits at, so on those rows | |
| # a per-row constant predictor already beats every arm we have run. They | |
| # carry loss but not discrimination, and they are exactly the rows on which | |
| # the level-only shortcut is close to optimal. Across the mixture they | |
| # were 31.6% of it. | |
| # | |
| # Two recipes are deliberately not cut for it. ``constant`` is the control | |
| # and is trivial on purpose; without it the model invents structure in flat | |
| # data. ``bottleneck`` is 65% trivial by that measure, but only because a | |
| # dip occupies a few of 64 log-time bins, so its cross-bin spread is small | |
| # however deep it is -- cutting the most studied event in the field to | |
| # improve an aggregate metric would be optimising the metric, not the | |
| # science. What moved instead is the balance inside the background family, | |
| # towards the two recipes that are both realistic and structure-demanding: | |
| # the empirical templates, only 13% trivial, and the founder chain, 9%. | |
| p_constant: float = 0.04 | |
| # Carries what the four random walks, ``near_constant`` and the two | |
| # stress walks carried between them. | |
| p_spectral_walk: float = 0.200 | |
| p_size_event: float = 0.10 | |
| p_multi_event: float = 0.08 | |
| p_exponential: float = 0.04 | |
| p_sawtooth: float = 0.03 | |
| # The published sawtooth's own neighbourhood. ``p_sawtooth`` covers the | |
| # shape space broadly and reaches this shape only in its tail -- of six | |
| # thousand free draws the closest sat 0.199 RMSE away, against 0.312 | |
| # between two ordinary draws -- and widening it made that worse, because | |
| # more axes buy coverage at the cost of density anywhere in particular. | |
| p_literature_sawtooth: float = 0.03 | |
| # The most studied event in the field, and ``size_event`` was giving it one | |
| # row in fifty: only 12.8% of its draws are a drop of half a decade or more | |
| # that ends and comes back. This draws from the same space, tilted onto | |
| # that corner. The overlap is deliberate -- the alternative is a broader | |
| # prior, which puts less density everywhere rather than more density here. | |
| p_bottleneck: float = 0.10 | |
| # A moving background with sharp events on it. Across the other recipes | |
| # 28.4% of rows carry a sharp event and 41.0% a moving background, but only | |
| # 2.7% carry both, against the 11.6% independence would give: every other | |
| # recipe is one or the other by construction. This is also the row a | |
| # shortcut fails on from either side. | |
| p_event_on_background: float = 0.086 | |
| p_ooa_chain: float = 0.08 | |
| p_empirical_human_ne_template: float = 0.19 | |
| # Eighteen single-population models across eight species, verbatim. Error | |
| # measured on these is evidence about generalisation in a way that error on | |
| # our own prior redrawn can never be, and because each model draws one | |
| # fixed trajectory, a run of them is a set of data replicates of a known | |
| # history -- which is what makes bias and variance on it readable straight | |
| # out of the dataset. phlash's simulation study is built the same way, | |
| # three replicates per scenario. | |
| # | |
| # All eighteen models, so at 2,400 rows in a hundred thousand each gets | |
| # about 133 replicates. | |
| p_stdpopsim_single_pop: float = 0.024 | |
| empirical_ne_template_dir: str = "templates/human_ne" | |
| stdpopsim_template_path: str = ( | |
| "templates/stdpopsim_single_pop/trajectories.csv" | |
| ) | |
| empirical_ne_template_source_mix: str = "smcpp_1kg:0.25,phlash_unified:0.60,phlash_super:0.10,msmc2_example:0.04,msmc_im_example:0.01" | |
| # The templates are 191 curves whose levels all sit within about half a | |
| # decade of each other, so a small shift left this recipe with a level | |
| # spread of 0.24 against 0.49 to 0.80 for every other recipe -- enough | |
| # that the level alone half-announces which recipe a row came from. | |
| empirical_ne_template_log10_shift_sd: float = 0.70 | |
| empirical_ne_template_contrast_sd: float = 0.10 | |
| empirical_ne_template_time_warp_sd: float = 0.15 | |
| empirical_ne_template_bin_noise_sd: float = 0.025 | |
| map_segments_min: int = 128 | |
| map_segments_max: int = 512 | |
| # A ratio, not an amplitude: the observation error's log spread divided by | |
| # the true map's own log spread. It used to be absolute, and that cannot | |
| # serve two maps at once -- a recombination map's log rate has a standard | |
| # deviation near 0.5 across a row and a mutation map's near 0.04, so an | |
| # absolute 0.25 left the observed recombination map correlating 0.851 with | |
| # the truth and the observed mutation map 0.163. Five to eight times more | |
| # noise than signal is not a noisy map, it is no map. | |
| observed_map_noise: float = 0.55 | |
| # Noise on a real map handed to the model, kept separate from the | |
| # synthetic one because it stands for the error in a published map | |
| # rather than in a map this code generated. At 0.25 the observed map | |
| # correlates 0.993 in log rate with the truth, which is to say it is the | |
| # truth; two real maps of one region correlate 0.687 at a kilobase. | |
| empirical_map_noise: float = 0.80 | |
| hotspot_missing_prob: float = 0.10 | |
| recomb_map: str = DEFAULT_RECOMB_MAP | |
| mut_map: str = DEFAULT_MUT_MAP | |
| # The deCODE bigWig is distributed in cM/Mb; writing the source units | |
| # rather than pre-converting keeps the file checkable against UCSC. | |
| recomb_map_unit: str = "cM_per_Mb" | |
| mut_map_unit: str = "per_bp" | |
| mut_map_scale_to_baseline: bool = True | |
| # Sites a caller invents. Drawn per row on a log scale across four orders | |
| # of magnitude, because what survives variant calling is a property of the | |
| # pipeline rather than of the population: a hard-filtered callset and a raw | |
| # one are orders of magnitude apart. Covering the range and recording the | |
| # draw is the honest treatment; picking one number is not. | |
| # | |
| # The range is set from what is observable rather than from a per-base | |
| # error rate: the share of singletons that are not real. Published | |
| # callsets put that anywhere from a few percent after hard filtering to | |
| # roughly a third in a raw one, and at a typical effective size a megabase | |
| # carries about sixteen hundred singletons, so the rate that spans it runs | |
| # from about 1.5e-5 to 6e-4 per base pair. | |
| false_variant_rate_per_bp_min: float = 1.5e-5 | |
| false_variant_rate_per_bp_max: float = 6.0e-4 | |
| genotype_error_min: float = 0.001 | |
| genotype_error_max: float = 0.004 | |
| missing_rate_min: float = 0.002 | |
| missing_rate_max: float = 0.020 | |
| # Phasing errors happen between consecutive heterozygous sites, which is | |
| # where a phasing algorithm makes a decision, not at a fixed rate per base | |
| # pair. Published switch-error rates for statistical phasing are 0.5% to | |
| # 2% of adjacent heterozygous pairs. The previous physical-distance rate | |
| # of at most 0.05 per Mb produced 1.7 switches per diploid over twenty | |
| # megabases where the literature implies roughly a hundred, and it also | |
| # mis-weighted the genome: at a fixed rate per base pair a sparse region | |
| # accumulates switches it has no heterozygous sites to express. | |
| phase_switch_rate_per_het_min: float = 0.002 | |
| phase_switch_rate_per_het_max: float = 0.020 | |
| enable_stdpopsim: bool = False | |
| stdpopsim_species: str = "HomSap" | |
| stdpopsim_models: str = "" | |
| stdpopsim_contig_length: int = 0 | |
| workers: int = 1 | |
| compression: bool = True | |
| compression_level: int = 1 | |
| # The true maps are what makes an oracle ablation possible: hand the model | |
| # the map the data was simulated under instead of the one it is given, and | |
| # the difference separates "limited by map error" from "limited by not | |
| # using the map". With the observed map now genuinely wrong -- it is | |
| # re-binned and noised rather than returned on the true breakpoints -- that | |
| # question has an answer worth measuring. | |
| # | |
| # They roughly double a sample on disk, so they are written for a fraction | |
| # of rows rather than all of them. An ablation needs statistical power, | |
| # not every row. | |
| # How much of the genealogy to keep alongside the sequence. | |
| # | |
| # "none" nothing | |
| # "summary" coalescences and branch length per target time bin, two | |
| # vectors of 64 floats: 512 bytes a row, 0.08% of the | |
| # simulation's runtime, and the sufficient statistic for Ne(t) | |
| # "full" the tree sequence itself, as a .trees file per row | |
| # | |
| # "full" is off by default because it is not a storage trade-off, it is a | |
| # wall: measured at twenty megabases and sixty-four haplotypes a .trees | |
| # file runs 0.8 MB at an effective size of three thousand and 27.8 MB | |
| # gzipped at a hundred thousand, twenty times the sequence data it came | |
| # from. A hundred thousand rows of it would be six to eight terabytes. | |
| # It exists so a dedicated, small dataset can be generated for a genealogy | |
| # or TMRCA model later without re-running everything -- set | |
| # ``arg_detail="full"`` with a few thousand rows. | |
| # | |
| # TMRCA is not a separate setting: it is derivable from "full" and its own | |
| # per-tree form costs one to three megabytes a row, the same order as the | |
| # genotypes, for information "summary" mostly already carries. | |
| arg_detail: str = "summary" | |
| # Reproducible subset, on the same index hash as ``truth_fraction`` so it | |
| # neither consumes the noise stream nor depends on row order. | |
| arg_fraction: float = 1.0 | |
| include_truth: bool = True | |
| truth_fraction: float = 0.02 | |
| max_retries: int = 3 | |
| def apply_preset(cfg: Config) -> Config: | |
| if cfg.preset == "mini": | |
| cfg.dataset_name = "DLCoalSim-Mini" | |
| cfg.n_samples = 512 | |
| cfg.shard_size = 32 | |
| cfg.seq_len = 1_000_000 | |
| cfg.n_haplotypes = 24 | |
| cfg.time_bins = 64 | |
| cfg.workers = 1 | |
| cfg.enable_stdpopsim = False | |
| cfg.p_stdpopsim_anchor = 0.0 | |
| elif cfg.preset == "core_v01": | |
| cfg.dataset_name = "DLCoalSim-Core-v0.1" | |
| cfg.n_samples = 20_000 | |
| cfg.shard_size = 128 | |
| cfg.seq_len = 10_000_000 | |
| cfg.n_haplotypes = 64 | |
| cfg.time_bins = 64 | |
| cfg.workers = -1 | |
| cfg.p_clean_constant = 0.25 | |
| cfg.p_random_global = 0.20 | |
| cfg.p_custom_hetero = 0.35 | |
| cfg.p_empirical_slice = 0.20 | |
| cfg.p_stdpopsim_anchor = 0.0 | |
| elif cfg.preset == "full_v01": | |
| cfg.dataset_name = "DLCoalSim-Full-v0.1" | |
| cfg.n_samples = 100_000 | |
| cfg.shard_size = 128 | |
| cfg.seq_len = 20_000_000 | |
| cfg.n_haplotypes = 64 | |
| cfg.time_bins = 64 | |
| cfg.workers = -1 | |
| cfg.p_clean_constant = 0.10 | |
| cfg.p_random_global = 0.15 | |
| cfg.p_custom_hetero = 0.55 | |
| cfg.p_empirical_slice = 0.20 | |
| cfg.p_stdpopsim_anchor = 0.0 | |
| else: | |
| raise ValueError(f"Unknown preset: {cfg.preset}") | |
| return cfg | |
| def validate_config(cfg: Config) -> None: | |
| def nonempty_string(name: str) -> str: | |
| value = getattr(cfg, name) | |
| if not isinstance(value, str) or not value.strip(): | |
| raise ValueError(f"{name} must be a non-empty string") | |
| return value | |
| def integer(name: str) -> int: | |
| value = getattr(cfg, name) | |
| if isinstance(value, bool) or not isinstance(value, Integral): | |
| raise ValueError(f"{name} must be an integer") | |
| return int(value) | |
| def finite(name: str) -> float: | |
| value = getattr(cfg, name) | |
| if isinstance(value, bool) or not isinstance(value, Real): | |
| raise ValueError(f"{name} must be a finite number") | |
| result = float(value) | |
| if not math.isfinite(result): | |
| raise ValueError(f"{name} must be a finite number") | |
| return result | |
| def positive_integer(name: str) -> int: | |
| value = integer(name) | |
| if value <= 0: | |
| raise ValueError(f"{name} must be greater than 0") | |
| return value | |
| def probability_range(min_name: str, max_name: str) -> None: | |
| minimum = finite(min_name) | |
| maximum = finite(max_name) | |
| if not 0.0 <= minimum <= 1.0: | |
| raise ValueError(f"{min_name} must be between 0 and 1") | |
| if not 0.0 <= maximum <= 1.0: | |
| raise ValueError(f"{max_name} must be between 0 and 1") | |
| if minimum > maximum: | |
| raise ValueError(f"{min_name} must not exceed {max_name}") | |
| def nonnegative_range(min_name: str, max_name: str) -> None: | |
| minimum = finite(min_name) | |
| maximum = finite(max_name) | |
| if minimum < 0.0: | |
| raise ValueError(f"{min_name} must be non-negative") | |
| if maximum < 0.0: | |
| raise ValueError(f"{max_name} must be non-negative") | |
| if minimum > maximum: | |
| raise ValueError(f"{min_name} must not exceed {max_name}") | |
| def boolean(name: str) -> bool: | |
| value = getattr(cfg, name) | |
| if not isinstance(value, bool): | |
| raise ValueError(f"{name} must be a boolean") | |
| return value | |
| def weight_group(name: str, fields: tuple[str, ...]) -> float: | |
| total = 0.0 | |
| for field in fields: | |
| value = finite(field) | |
| if value < 0.0: | |
| raise ValueError(f"{field} must be non-negative") | |
| total += value | |
| if not math.isfinite(total) or total <= 0.0: | |
| raise ValueError(f"at least one {name} probability must be greater than 0") | |
| return total | |
| def empirical_ne_source_mix() -> None: | |
| text = cfg.empirical_ne_template_source_mix | |
| if not isinstance(text, str): | |
| raise ValueError("empirical_ne_template_source_mix must be a string") | |
| total = 0.0 | |
| found = False | |
| seen: set[str] = set() | |
| for raw_token in text.split(","): | |
| token = raw_token.strip() | |
| if not token: | |
| continue | |
| found = True | |
| if ":" in token: | |
| key, raw_weight = token.split(":", 1) | |
| key = key.strip() | |
| raw_weight = raw_weight.strip() | |
| if not key or not raw_weight: | |
| raise ValueError( | |
| "empirical_ne_template_source_mix entries must use 'source[:weight]'" | |
| ) | |
| try: | |
| weight = float(raw_weight) | |
| except ValueError as exc: | |
| raise ValueError( | |
| f"empirical_ne_template_source_mix has a non-numeric weight for {key!r}" | |
| ) from exc | |
| else: | |
| key = token | |
| weight = 1.0 | |
| if key not in EMPIRICAL_NE_SOURCE_KEYS: | |
| supported = ", ".join(sorted(EMPIRICAL_NE_SOURCE_KEYS)) | |
| raise ValueError( | |
| f"empirical_ne_template_source_mix contains unknown source {key!r}; " | |
| f"supported sources: {supported}" | |
| ) | |
| if key in seen: | |
| raise ValueError( | |
| f"empirical_ne_template_source_mix contains duplicate source {key!r}" | |
| ) | |
| seen.add(key) | |
| if not math.isfinite(weight) or weight < 0.0: | |
| raise ValueError( | |
| f"empirical_ne_template_source_mix weight for {key!r} must be finite and non-negative" | |
| ) | |
| total += weight | |
| if not math.isfinite(total): | |
| raise ValueError("empirical_ne_template_source_mix weights sum to a non-finite value") | |
| if not found or total <= 0.0: | |
| raise ValueError( | |
| "empirical_ne_template_source_mix must contain at least one positive source weight" | |
| ) | |
| nonempty_string("dataset_name") | |
| if cfg.preset not in {"mini", "core_v01", "full_v01"}: | |
| raise ValueError("preset must be 'mini', 'core_v01', or 'full_v01'") | |
| out_dir_text = nonempty_string("out_dir") | |
| out_dir = Path(out_dir_text).expanduser().resolve() | |
| protected_output_dirs = { | |
| Path(out_dir.anchor).resolve(), | |
| Path.home().resolve(), | |
| Path(__file__).resolve().parents[1], | |
| } | |
| if out_dir in protected_output_dirs: | |
| raise ValueError( | |
| f"out_dir must be a dedicated dataset directory, not protected path {out_dir}" | |
| ) | |
| nonempty_string("demography_mixture_version") | |
| nonempty_string("empirical_ne_template_dir") | |
| for name in ("recomb_map", "mut_map", "stdpopsim_models"): | |
| value = getattr(cfg, name) | |
| if not isinstance(value, str): | |
| raise ValueError(f"{name} must be a string") | |
| nonempty_string("stdpopsim_species") | |
| if cfg.arg_detail not in {"none", "summary", "full"}: | |
| raise ValueError("arg_detail must be 'none', 'summary', or 'full'") | |
| if not 0.0 <= cfg.arg_fraction <= 1.0: | |
| raise ValueError("arg_fraction must lie in [0, 1]") | |
| positive_integer("n_samples") | |
| positive_integer("shard_size") | |
| positive_integer("compute_chunk_size") | |
| seq_len = positive_integer("seq_len") | |
| n_haplotypes = positive_integer("n_haplotypes") | |
| positive_integer("time_bins") | |
| if n_haplotypes < 2: | |
| raise ValueError("n_haplotypes must be at least 2") | |
| if n_haplotypes % 2 != 0: | |
| raise ValueError("n_haplotypes must be even because samples are simulated as diploid individuals") | |
| if n_haplotypes > INT16_MAX: | |
| raise ValueError(f"n_haplotypes must not exceed the int16 storage limit ({INT16_MAX})") | |
| packed_hap_bytes = math.ceil(n_haplotypes / 8) | |
| if packed_hap_bytes > INT16_MAX: | |
| raise ValueError(f"packed haplotype width must not exceed the int16 storage limit ({INT16_MAX})") | |
| if seq_len > UINT32_MAX: | |
| raise ValueError(f"seq_len must not exceed the uint32 position limit ({UINT32_MAX})") | |
| # There is no bound on ``seq_len * n_haplotypes`` here. The sparse missing | |
| # index addresses the (variants, haplotypes) matrix, not the (bases, | |
| # haplotypes) one, and variants are three orders of magnitude rarer than | |
| # bases -- the old check rejected 60 Mb at 64 haplotypes, which stores an | |
| # index reaching about one billion. The width is chosen per row from the | |
| # matrix actually built and declared in ``missing_storage``. | |
| resolution = finite("demography_resolution_log10") | |
| if resolution <= 0.0: | |
| raise ValueError("demography_resolution_log10 must be greater than 0") | |
| min_time = finite("min_time") | |
| max_time = finite("max_time") | |
| if min_time <= 0.0: | |
| raise ValueError("min_time must be greater than 0") | |
| if max_time <= min_time: | |
| raise ValueError("max_time must be greater than min_time") | |
| for name in ("baseline_mu", "baseline_rec"): | |
| value = finite(name) | |
| if value <= 0.0: | |
| raise ValueError(f"{name} must be greater than 0") | |
| if value < FLOAT32_MIN_POSITIVE: | |
| raise ValueError(f"{name} is too small to remain positive in float32 storage") | |
| if value > MAX_BASELINE_RATE: | |
| raise ValueError( | |
| f"{name} must not exceed {MAX_BASELINE_RATE:g} per bp per generation " | |
| "because synthetic maps can amplify a baseline rate by up to " | |
| f"{MAX_SYNTHETIC_RATE_MULTIPLIER:g}x" | |
| ) | |
| if value > FLOAT32_MAX: | |
| raise ValueError(f"{name} exceeds the float32 storage limit") | |
| for name in ( | |
| "force", | |
| "compression", | |
| "include_truth", | |
| "enable_stdpopsim", | |
| "mut_map_scale_to_baseline", | |
| ): | |
| boolean(name) | |
| weight_group("source", SOURCE_PROB_FIELDS) | |
| enabled_source_total = sum( | |
| finite(name) | |
| for name in SOURCE_PROB_FIELDS | |
| if name != "p_stdpopsim_anchor" | |
| ) | |
| if cfg.enable_stdpopsim: | |
| enabled_source_total += finite("p_stdpopsim_anchor") | |
| if enabled_source_total <= 0.0: | |
| raise ValueError("at least one enabled source probability must be greater than 0") | |
| weight_group("demography", DEMOGRAPHY_PROB_FIELDS) | |
| empirical_ne_source_mix() | |
| probability_range("genotype_error_min", "genotype_error_max") | |
| probability_range("missing_rate_min", "missing_rate_max") | |
| if not 0.0 <= float(cfg.truth_fraction) <= 1.0: | |
| raise ValueError("truth_fraction must lie in [0, 1]") | |
| probability_range("phase_switch_rate_per_het_min", "phase_switch_rate_per_het_max") | |
| hotspot_missing_prob = finite("hotspot_missing_prob") | |
| if not 0.0 <= hotspot_missing_prob <= 1.0: | |
| raise ValueError("hotspot_missing_prob must be between 0 and 1") | |
| for name in ( | |
| "observed_map_noise", | |
| "empirical_ne_template_log10_shift_sd", | |
| "empirical_ne_template_contrast_sd", | |
| "empirical_ne_template_time_warp_sd", | |
| "empirical_ne_template_bin_noise_sd", | |
| ): | |
| if finite(name) < 0.0: | |
| raise ValueError(f"{name} must be non-negative") | |
| map_segments_min = positive_integer("map_segments_min") | |
| map_segments_max = positive_integer("map_segments_max") | |
| if map_segments_min > map_segments_max: | |
| raise ValueError("map_segments_min must not exceed map_segments_max") | |
| max_retries = integer("max_retries") | |
| if max_retries < 1: | |
| raise ValueError("max_retries must be at least 1") | |
| workers = integer("workers") | |
| if workers != -1 and workers < 1: | |
| raise ValueError("workers must be -1 or an integer greater than 0") | |
| compression_level = integer("compression_level") | |
| if not 0 <= compression_level <= 9: | |
| raise ValueError("compression_level must be between 0 and 9") | |
| integer("seed") | |
| stdpopsim_contig_length = integer("stdpopsim_contig_length") | |
| if stdpopsim_contig_length < 0: | |
| raise ValueError("stdpopsim_contig_length must be 0 or greater") | |
| if stdpopsim_contig_length > UINT32_MAX: | |
| raise ValueError(f"stdpopsim_contig_length must not exceed the uint32 position limit ({UINT32_MAX})") | |
| if cfg.recomb_map_unit not in {"per_bp", "cM_per_Mb"}: | |
| raise ValueError("recomb_map_unit must be 'per_bp' or 'cM_per_Mb'") | |
| if cfg.mut_map_unit not in {"per_bp", "relative", "roulette_raw"}: | |
| raise ValueError("mut_map_unit must be 'per_bp', 'relative', or 'roulette_raw'") | |