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population-genetics
demographic-inference
effective-population-size
coalescent
msprime
simulation
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20.7 kB
| from __future__ import annotations | |
| import dataclasses | |
| import hashlib | |
| import json | |
| import sys | |
| from pathlib import Path | |
| from types import SimpleNamespace | |
| import msprime | |
| import numpy as np | |
| import pytest | |
| from simulator.config import ( | |
| DEMOGRAPHY_PROB_FIELDS, | |
| SOURCE_PROB_FIELDS, | |
| Config, | |
| apply_preset, | |
| validate_config, | |
| ) | |
| from simulator.dataset_files import write_dataset_files | |
| from simulator.demography import ( | |
| DEMO_PROB_FIELDS, | |
| DEMO_SAMPLERS, | |
| _clean_demography, | |
| epochs_from_curve, | |
| sample_custom_demography, | |
| spectral_walk_curve, | |
| ) | |
| from simulator.sample import simulate_one | |
| from simulator.stdpopsim_support import try_stdpopsim_sample | |
| from simulator.utils import bin_average_log10_ne, time_grid | |
| def _only_demography( | |
| name: str, | |
| *, | |
| target_bins: int, | |
| ) -> Config: | |
| cfg = dataclasses.replace( | |
| Config(), | |
| time_bins=target_bins, | |
| ) | |
| for field in DEMOGRAPHY_PROB_FIELDS: | |
| setattr(cfg, field, 0.0) | |
| setattr(cfg, dict(DEMO_PROB_FIELDS)[name], 1.0) | |
| return cfg | |
| def _without_target_resolution(meta: dict) -> dict: | |
| """Drop what the target grid decides, keeping what the history decides. | |
| The genealogy summary is bucketed on the target grid, so its total is a | |
| sum over a different number of terms at 48 bins than at 64 and differs in | |
| the last bits; the count of resolvable bins is resolution-dependent by | |
| definition. | |
| """ | |
| result = dict(meta) | |
| for key in ( | |
| "target_time_bins", | |
| "pair_coalescences_total", | |
| "resolvable_bins", | |
| ): | |
| result.pop(key, None) | |
| return result | |
| def test_target_resolution_does_not_change_any_latent_history_or_rng( | |
| generator_recipe: str, | |
| ) -> None: | |
| cfg48 = _only_demography(generator_recipe, target_bins=48) | |
| cfg64 = dataclasses.replace(cfg48, time_bins=64) | |
| seed = 830_001 | |
| rng48 = np.random.default_rng(seed) | |
| rng64 = np.random.default_rng(seed) | |
| demography48, target48, meta48 = sample_custom_demography(rng48, cfg48) | |
| demography64, target64, meta64 = sample_custom_demography(rng64, cfg64) | |
| assert demography48.asdict() == demography64.asdict() | |
| assert _without_target_resolution(meta48) == _without_target_resolution(meta64) | |
| assert rng48.bit_generator.state == rng64.bit_generator.state | |
| assert target48.shape == (48,) | |
| assert target64.shape == (64,) | |
| edges64, _ = time_grid(cfg64) | |
| expected64 = bin_average_log10_ne( | |
| edges64, | |
| meta64["demography_breaks"], | |
| meta64["demography_values"], | |
| meta64["demography_growth_rates"], | |
| ) | |
| np.testing.assert_array_equal(target64, expected64) | |
| def test_64_bin_target_nests_to_the_same_32_bin_analytic_target() -> None: | |
| cfg32 = _only_demography("spectral_walk", target_bins=32) | |
| cfg64 = dataclasses.replace(cfg32, time_bins=64) | |
| _, target32, meta32 = sample_custom_demography(np.random.default_rng(101), cfg32) | |
| _, target64, meta64 = sample_custom_demography(np.random.default_rng(101), cfg64) | |
| assert _without_target_resolution(meta32) == _without_target_resolution(meta64) | |
| edges32, _ = time_grid(cfg32) | |
| edges64, _ = time_grid(cfg64) | |
| np.testing.assert_array_equal(edges64[::2], edges32) | |
| coarsened64 = target64.astype(np.float64).reshape(32, 2).mean(axis=1) | |
| np.testing.assert_allclose(target32, coarsened64, rtol=0.0, atol=5e-7) | |
| def _full_sample_config(*, target_bins: int) -> Config: | |
| cfg = dataclasses.replace( | |
| Config(), | |
| dataset_name="target-grid-regression", | |
| seq_len=10_000, | |
| n_haplotypes=8, | |
| time_bins=target_bins, | |
| baseline_mu=1.0e-7, | |
| map_segments_min=8, | |
| map_segments_max=8, | |
| include_truth=True, | |
| ) | |
| for field in SOURCE_PROB_FIELDS: | |
| setattr(cfg, field, 0.0) | |
| cfg.p_custom_hetero = 1.0 | |
| for field in DEMOGRAPHY_PROB_FIELDS: | |
| setattr(cfg, field, 0.0) | |
| cfg.p_spectral_walk = 1.0 | |
| validate_config(cfg) | |
| return cfg | |
| def test_target_resolution_does_not_change_full_same_seed_sample() -> None: | |
| cfg48 = _full_sample_config(target_bins=48) | |
| cfg64 = dataclasses.replace(cfg48, time_bins=64) | |
| empirical = {"rec_maps": {}, "mut_maps": {}} | |
| sample48 = simulate_one((0, dataclasses.asdict(cfg48), empirical, 991_337)) | |
| sample64 = simulate_one((0, dataclasses.asdict(cfg64), empirical, 991_337)) | |
| for key in sample48: | |
| # The genealogy summary is binned on the target grid, like the label | |
| # itself, so it is a function of the resolution by design: it exists to | |
| # say how many coalescences fell in each *target* bin. Everything else | |
| # is the latent history and the sequence, which the resolution must not | |
| # touch. | |
| if key in { | |
| "target_log10_ne", | |
| "metadata", | |
| "pair_coalescences_per_bin", | |
| "branch_length_per_bin", | |
| }: | |
| continue | |
| if isinstance(sample48[key], np.ndarray): | |
| assert sample48[key].dtype == sample64[key].dtype, key | |
| np.testing.assert_array_equal(sample48[key], sample64[key], err_msg=key) | |
| assert sample48[key].tobytes(order="C") == sample64[key].tobytes( | |
| order="C" | |
| ), key | |
| else: | |
| assert sample48[key] == sample64[key], key | |
| assert sample48["target_log10_ne"].shape == (48,) | |
| assert sample64["target_log10_ne"].shape == (64,) | |
| assert sample48["target_log10_ne"].dtype == np.float32 | |
| assert sample48["pair_coalescences_per_bin"].shape == (48,) | |
| assert sample64["pair_coalescences_per_bin"].shape == (64,) | |
| # Resolution changes how the genealogy is bucketed, never how much of it | |
| # there was. | |
| assert sample48["pair_coalescences_per_bin"].sum() == pytest.approx( | |
| sample64["pair_coalescences_per_bin"].sum() | |
| ) | |
| assert sample48["branch_length_per_bin"].sum() == pytest.approx( | |
| sample64["branch_length_per_bin"].sum(), rel=1e-5 | |
| ) | |
| assert sample64["target_log10_ne"].dtype == np.float32 | |
| assert _without_target_resolution(sample48["metadata"]) == _without_target_resolution( | |
| sample64["metadata"] | |
| ) | |
| def test_core_manifest_records_distinct_target_and_history_grids( | |
| tmp_path: Path, | |
| ) -> None: | |
| cfg = apply_preset(Config(preset="core_v01")) | |
| cfg.out_dir = str(tmp_path / "dataset") | |
| write_dataset_files(cfg, {"n_samples": 0}) | |
| config = json.loads( | |
| (Path(cfg.out_dir) / "config.json").read_text(encoding="utf-8") | |
| ) | |
| manifest = json.loads( | |
| (Path(cfg.out_dir) / "manifest.json").read_text(encoding="utf-8") | |
| ) | |
| for payload in (config, manifest): | |
| assert payload["time_bins"] == 64 | |
| assert payload["demography_resolution_log10"] > 0.0 | |
| assert len(payload["time_edges"]) == 65 | |
| assert len(payload["time_mids"]) == 64 | |
| def test_stdpopsim_target_resolution_does_not_change_model_or_simulation_seed( | |
| monkeypatch: pytest.MonkeyPatch, | |
| ) -> None: | |
| source_demography = msprime.Demography() | |
| source_demography.add_population( | |
| name="target", | |
| initial_size=80_000.0, | |
| growth_rate=0.001, | |
| ) | |
| source_demography.add_population_parameters_change( | |
| time=777.0, | |
| initial_size=12_000.0, | |
| growth_rate=0.0, | |
| population="target", | |
| ) | |
| source_demography.sort_events() | |
| class FakeTreeSequence: | |
| sequence_length = 10_000 | |
| def trim(self): | |
| return self | |
| simulation_seeds: list[int] = [] | |
| class FakeEngine: | |
| def simulate(self, model, contig, samples, seed): | |
| simulation_seeds.append(int(seed)) | |
| return FakeTreeSequence() | |
| model = SimpleNamespace( | |
| id="FakeModel", | |
| populations=[SimpleNamespace(id="target")], | |
| model=source_demography, | |
| get_samples=lambda *args: {"target": int(args[0])}, | |
| ) | |
| species = SimpleNamespace( | |
| demographic_models=[model], | |
| get_demographic_model=lambda model_id: model, | |
| get_contig=lambda **kwargs: SimpleNamespace(**kwargs), | |
| ) | |
| fake_stdpopsim = SimpleNamespace( | |
| get_species=lambda species_id: species, | |
| get_engine=lambda engine_id: FakeEngine(), | |
| ) | |
| monkeypatch.setitem(sys.modules, "stdpopsim", fake_stdpopsim) | |
| cfg48 = dataclasses.replace( | |
| Config(), | |
| enable_stdpopsim=True, | |
| stdpopsim_models="FakeModel", | |
| time_bins=48, | |
| ) | |
| cfg64 = dataclasses.replace(cfg48, time_bins=64) | |
| result48 = try_stdpopsim_sample(np.random.default_rng(2026), cfg48) | |
| result64 = try_stdpopsim_sample(np.random.default_rng(2026), cfg64) | |
| assert result48 is not None | |
| assert result64 is not None | |
| _, target48, meta48, _ = result48 | |
| _, target64, meta64, _ = result64 | |
| assert simulation_seeds[0] == simulation_seeds[1] | |
| assert _without_target_resolution(meta48) == _without_target_resolution(meta64) | |
| assert target48.shape == (48,) | |
| assert target64.shape == (64,) | |
| def _trajectory_hash( | |
| breaks: list[float], | |
| values: list[float], | |
| growth_rates: list[float], | |
| ) -> str: | |
| digest = hashlib.sha256() | |
| for items in (breaks, values, growth_rates): | |
| array = np.asarray(items, dtype="<f8") | |
| digest.update(np.asarray([array.size], dtype="<u8").tobytes(order="C")) | |
| digest.update(array.tobytes(order="C")) | |
| return digest.hexdigest() | |
| def test_latent_histories_are_pinned( | |
| # Nine of these twelve are byte-identical to the goldens taken before | |
| # histories became functions of continuous time, random-number tails | |
| # included, which is the evidence that the change reached only what it was | |
| # aimed at. The three that moved are the three that were being evaluated on | |
| # a grid: ``spectral_walk`` and ``event_on_background`` keep their tails and | |
| # changed only where their epochs fall, and ``empirical_human_ne_template`` | |
| # draws its perturbation per template knot instead of per label bin, which | |
| # is a different number of draws and so a different tail. | |
| recipe: str, | |
| seed: int, | |
| expected_hash: str, | |
| expected_tail: int, | |
| ) -> None: | |
| cfg = Config() | |
| edges, mids = time_grid(cfg) | |
| rng = np.random.default_rng(seed) | |
| breaks, values, meta = DEMO_SAMPLERS[recipe](rng, cfg, edges, mids) | |
| breaks, values, growth_rates = _clean_demography( | |
| breaks, | |
| values, | |
| meta.get("demography_growth_rates"), | |
| # Mirror the production path: the band a sampler is clipped to is part | |
| # of what the golden pins, so reading it here would silently test the | |
| # regular band for a stress recipe. | |
| stress="stress" in recipe, | |
| ) | |
| assert _trajectory_hash(breaks, values, growth_rates) == expected_hash | |
| assert int(rng.bit_generator.random_raw()) == expected_tail | |
| # -------------------------------------------------------------------------- | |
| # The label grid is a view of the history, never an input to it | |
| # -------------------------------------------------------------------------- | |
| def test_the_latent_history_does_not_depend_on_the_label_resolution() -> None: | |
| """Asking for a finer label must not change the prior the data comes from. | |
| The samplers used to step ``cfg.time_bins`` times and place their knots at a | |
| fixed fraction of that count, so moving the target from 48 bins to 64 moved | |
| the histories with it. That is why a separate, frozen generation grid had | |
| to exist at all. Histories are now functions of continuous time, so the | |
| same seed gives the same history at any label resolution and the grid is | |
| free to move. | |
| """ | |
| for seed in range(120): | |
| histories = [] | |
| for bins in (64, 96, 128): | |
| cfg = dataclasses.replace(Config(), time_bins=bins) | |
| _, target, meta = sample_custom_demography(np.random.default_rng(seed), cfg) | |
| assert np.asarray(target).shape == (bins,) | |
| histories.append( | |
| ( | |
| meta["generator_recipe"], | |
| tuple(meta["demography_breaks"]), | |
| tuple(meta["demography_values"]), | |
| tuple(meta["demography_growth_rates"]), | |
| ) | |
| ) | |
| assert histories[0] == histories[1] == histories[2], ( | |
| f"seed {seed} ({histories[0][0]}) drew a different history per label grid" | |
| ) | |
| def test_every_label_resolution_is_a_view_of_the_same_curve() -> None: | |
| """And the label itself is that history averaged onto whichever grid.""" | |
| for seed in range(60): | |
| for bins in (64, 96, 128): | |
| cfg = dataclasses.replace(Config(), time_bins=bins) | |
| _, target, meta = sample_custom_demography(np.random.default_rng(seed), cfg) | |
| np.testing.assert_allclose( | |
| bin_average_log10_ne( | |
| time_grid(cfg)[0], | |
| list(meta["demography_breaks"]), | |
| list(meta["demography_values"]), | |
| list(meta["demography_growth_rates"]), | |
| ), | |
| target, | |
| rtol=0.0, | |
| atol=1e-9, | |
| ) | |
| def test_epochs_follow_the_curve_to_the_tolerance_they_promise() -> None: | |
| """``epochs_from_curve`` is defined by an error bound, so hold it to it. | |
| The bound is what replaces the bin count: nothing downstream may assume a | |
| number of epochs, only that the piecewise-constant history is never further | |
| than ``tol`` from the curve it stands for. | |
| """ | |
| rng = np.random.default_rng(3) | |
| for _ in range(30): | |
| seed = int(rng.integers(1 << 40)) | |
| slope = float(rng.uniform(0.6, 2.0)) | |
| modes = int(rng.integers(6, 49)) | |
| tilt = float(rng.uniform(-1.2, 1.2)) | |
| span = float(rng.uniform(0.3, 3.0)) | |
| def curve(t: np.ndarray) -> np.ndarray: | |
| return spectral_walk_curve(t, seed, slope, modes, tilt, span, 4.0) | |
| for tol in (0.1, 0.02): | |
| breaks, values = epochs_from_curve(curve, 50.0, 500_000.0, tol) | |
| edges = np.concatenate(([50.0], breaks, [500_000.0])) | |
| for index, (left, right) in enumerate(zip(edges[:-1], edges[1:])): | |
| probe = curve(np.geomspace(left, right, 33)) | |
| held = np.log10(values[index]) | |
| assert float(np.max(np.abs(probe - held))) <= tol, ( | |
| f"epoch {index} drifts past its {tol} bound" | |
| ) | |
| # -------------------------------------------------------------------------- | |
| # The genealogy summary has to be sufficient for what it claims | |
| # -------------------------------------------------------------------------- | |
| def test_the_stored_genealogy_summary_reconstructs_the_coalescence_rate( | |
| n_haplotypes: int, | |
| ) -> None: | |
| """The counts are stored so a rate can be rebuilt from them; hold them to it. | |
| Rebuilding needs the pairs still uncoalesced entering each bin, which is the | |
| total minus everything that has already met -- including whatever met more | |
| recently than the first bin edge. That is one to two percent of pairs, and | |
| leaving it out barely moves the recent bins but compounds into the deep | |
| ones, where only a handful of pairs are left: measured at 256 haplotypes it | |
| reached 3.3 in log10 Ne before ``pair_coalescences_outside`` existed. | |
| """ | |
| import msprime | |
| from simulator.sample import genealogy_summary | |
| edges, _ = time_grid(Config()) | |
| windows = np.concatenate(([0.0], edges, [np.inf])) | |
| ts = msprime.sim_ancestry( | |
| samples=n_haplotypes // 2, | |
| sequence_length=5_000_000, | |
| recombination_rate=1.25e-8, | |
| population_size=12_000, | |
| ploidy=2, | |
| random_seed=13, | |
| ) | |
| counts, _, outside = genealogy_summary(ts, edges) | |
| total = n_haplotypes * (n_haplotypes - 1) // 2 | |
| assert float(counts.sum() + outside.sum()) == pytest.approx(total, rel=1e-9) | |
| assert outside[0] > 0.0, "some pairs always coalesce more recently than 50 generations" | |
| # Rebuild the rate the way a reader would, and check it against tskit's own. | |
| remaining = total - outside[0] - np.concatenate(([0.0], np.cumsum(counts)[:-1])) | |
| with np.errstate(all="ignore"): | |
| fraction = np.clip(counts / np.maximum(remaining, 1e-12), 0.0, 1.0 - 1e-12) | |
| rebuilt = -np.log1p(-fraction) / np.diff(edges) | |
| reference = np.asarray(ts.pair_coalescence_rates(time_windows=windows))[1:-1] | |
| # A bin in which every pair still at risk coalesces has no rate to report: | |
| # the survival form divides by what is left over and nothing is. tskit | |
| # answers such a bin with its own convention; exclude it rather than pin | |
| # someone else's tail handling. | |
| exhausted = counts >= remaining - 1e-9 | |
| usable = np.isfinite(reference) & (remaining >= 1.0) & ~exhausted | |
| assert usable.sum() >= 40, "too few bins to be a real check" | |
| np.testing.assert_allclose(rebuilt[usable], reference[usable], rtol=1e-9) | |
| def test_the_genealogy_summary_is_per_unit_sequence() -> None: | |
| """Both halves of it, so their ratio means one thing at every length. | |
| ``pair_coalescence_counts`` normalises by span on its own. If the branch | |
| length beside it were left as a total it would scale with the sequence while | |
| the counts did not, and anyone forming the natural ratio would carry a | |
| factor of the length that belongs to neither -- across a matrix spanning | |
| 20 to 80 Mb that is a fourfold artefact. | |
| """ | |
| import msprime | |
| from simulator.sample import genealogy_summary | |
| edges, _ = time_grid(Config()) | |
| summaries = {} | |
| for sequence_length in (5_000_000, 20_000_000, 80_000_000): | |
| ts = msprime.sim_ancestry( | |
| samples=32, | |
| sequence_length=sequence_length, | |
| recombination_rate=1.25e-8, | |
| population_size=12_000, | |
| ploidy=2, | |
| random_seed=13, | |
| ) | |
| summaries[sequence_length] = genealogy_summary(ts, edges) | |
| reference_counts = summaries[5_000_000][0].sum() | |
| reference_exposure = summaries[5_000_000][1].sum() | |
| for sequence_length, (counts, exposure, _) in summaries.items(): | |
| assert counts.sum() == pytest.approx(reference_counts, rel=0.01), sequence_length | |
| assert exposure.sum() == pytest.approx(reference_exposure, rel=0.05), sequence_length | |