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Tags:
population-genetics
demographic-inference
effective-population-size
coalescent
msprime
simulation
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| license: cc-by-4.0 | |
| pretty_name: NeCast simulations | |
| tags: | |
| - population-genetics | |
| - demographic-inference | |
| - effective-population-size | |
| - coalescent | |
| - msprime | |
| - simulation | |
| size_categories: | |
| - 100K<n<1M | |
| configs: | |
| - config_name: index | |
| data_files: index/windows.parquet | |
| default: true | |
| # NeCast simulations | |
| Simulated genotype windows used to train and test NeCast, a neural network that estimates the | |
| size history of a population from 32 diploid genomes together with recombination and mutation | |
| maps. There are 109,248 windows. Each is 30 Mb of sequence sampled from 64 diploid individuals, | |
| with sequencing-like errors already applied, and each comes with its true size history. The | |
| files the network was trained on are included, as are the code and configuration that made the | |
| windows. | |
|  | |
| **What the corpus covers.** **a**, Eight training windows drawn at random from each of the | |
| twelve families of size history, with the number of windows in each family. Each line is a | |
| window's 64 interval labels, drawn through the interval centres. **b**, Windows by the type of | |
| map stored with them. Every window carries sequencing-like errors except those with constant maps | |
| at the baseline rates. **c**, Variant sites per window, false sites included. | |
| ## Contents | |
| | path | what it holds | size | | |
| |---|---|---| | |
| | `windows/000/` to `windows/027/` | the 109,248 windows, four per `.npz` file, with per-window metadata in the `.jsonl.gz` file of the same name | 567 GB | | |
| | `windows/receipts.jsonl.gz` | the receipt written when each file was generated, with its SHA-256 | small | | |
| | `index/windows.parquet` | one row per window: where it is stored, its split, how it was simulated | 0.05 GB | | |
| | `index/histories.parquet` | the epochs of every simulated history, by window | 0.93 GB | | |
| | `splits/` | the train / development / reserved split, and the windows used to train, validate and test the final network | 0.2 GB | | |
| | `features/` | what the final network reads, for the 104,996 train and development windows | 15.7 GB | | |
| | `additional/` | the same inputs for 1, 2, 4, 8 and 16 individuals, and a variant of the PSMC+ posterior | 63.1 GB | | |
| | `generator/` | the simulator code, the generation plan and the map scripts | small | | |
| | `tools/necast_windows.py` | a reader that needs only numpy | small | | |
| | `logs/` | build logs of the feature files | small | | |
| | `figures/` | the figures on this card | small | | |
| | `SHA256SUMS` | a checksum for every file except this card | small | | |
| The windows are grouped by generation chunk: `windows/NNN/` holds chunks `NNN000` to `NNN999`. | |
| Window `sim_XXXXXXXX` is member `XXXXXXXX mod 4` of file `fragment_{XXXXXXXX div 4}`. The run | |
| planned 110,000 windows in 27,500 chunks of four; 188 chunks were not generated, so window | |
| numbers have gaps. The index lists every window that exists. | |
| ## How the windows were simulated | |
| - **Sequence and sample.** 30 Mb, 64 diploid individuals (128 haplotypes). msprime 1.4.2 with | |
| the default coalescent with recombination (the full ancestral recombination graph), a binary | |
| mutation model, the window's true recombination and mutation maps, and no gene conversion. | |
| - **Size histories.** Twelve families, named in `generator_recipe`: constant (`constant`), | |
| exponential (`exponential`), one size change (`size_event`), several changes (`multi_event`), | |
| bottleneck (`bottleneck`), event on a trend (`event_on_background`), random walk | |
| (`spectral_walk`), sawtooth (`sawtooth`), zigzag-like (`literature_sawtooth`), founder chain | |
| (`ooa_chain`), perturbed published human histories (`empirical_human_ne_template`; 191 curves | |
| inferred by SMC++, phlash, MSMC2 and MSMC-IM), and the 18 single-population models of the | |
| stdpopsim catalogue (`stdpopsim_single_pop`). Sizes stay between 100 and 1,000,000. The | |
| realised parameters of every history are in the metadata. | |
| - **Maps** (`map_type`). A constant map at the baseline rates (`constant_clean`), constant | |
| rates drawn at random (`constant_random_global`), synthetic heterogeneous maps | |
| (`synthetic_heterogeneous`), or 30 Mb slices of the deCODE 2019 recombination map and the | |
| Roulette mutation map taken from the same chromosomal interval (`empirical_slice`). | |
| - **Errors** (`noise_profile`). `mild_noise` windows have genotype errors, missing calls, false | |
| variant sites and phase switches within individuals, at rates drawn per window and recorded | |
| in the metadata (`noise_*` fields). `clean` windows, which are the `constant_clean` ones, | |
| have none. | |
| - **Maps stored with a window** are the maps a method is given. Constant maps are stored | |
| exactly. Synthetic and empirical maps are stored as the true map seen through noise: a | |
| log-normal factor with mean one on short cells (`observed_cell_bp`), smaller for the mutation | |
| map, and for synthetic maps some hotspots left out. The noise size is in the metadata | |
| (`observed_noise_sigma`, and `rec_slice_*` and `mut_slice_*` for empirical slices). The true | |
| maps are not stored. | |
| - **Labels.** `target_log10_ne` gives, for each of 64 time intervals spaced evenly in log time | |
| between 50 and 500,000 generations ago, the average of log10 Ne over the interval (averaged in | |
| log time) of the simulated history. The file also stores the true number of pairwise | |
| coalescences and the total branch length in each interval. | |
| ## Splits and the windows used by the final network | |
| Windows were assigned by a hash of their identifier: 100,000 train, 5,000 development and | |
| 4,248 reserved. Four train windows have no PSMC+ output and belong to no split (`split = none` | |
| in the index), leaving 99,996 train windows. | |
| The final NeCast network was fitted on 89,996 train windows. Another 500 train windows picked | |
| the training epoch (`stage = validation`), and 500 development windows were the test set | |
| (`stage = test`); both sets of 500 sit at evenly spaced quantiles of the number of variant sites. | |
| `splits/stages.json` lists them by sample ID and by feature row. | |
| The 4,248 reserved windows were never used to train, select or score a network. Their PSMC+ | |
| output was computed (it is in `features/psmcplus_store/`), but they were left out of every other | |
| feature file. Now that they are public, they no longer serve as an untouched test set. | |
| ## Reading a window | |
|  | |
| **One window, `sim_00000016`**: a perturbed published human history, slices of the deCODE and | |
| Roulette maps, and errors. **a**, Diploid genotypes of the 64 individuals at the 133 variant | |
| sites between 15.00 and 15.10 Mb: 0 pale grey, 1 light purple, 2 purple; missing calls are empty cells. | |
| **b**, The recombination and mutation maps stored with the window, averaged in 300-kb bins. | |
| **c**, The simulated history (grey) and its 64 interval labels (black), which are the | |
| network's targets. | |
| ```python | |
| from huggingface_hub import hf_hub_download | |
| import sys | |
| path = hf_hub_download("Larrivhan/NeCast-simulations", "windows/000/fragment_00000000.npz", repo_type="dataset") | |
| hf_hub_download("Larrivhan/NeCast-simulations", "windows/000/fragment_00000000.jsonl.gz", repo_type="dataset") | |
| reader = hf_hub_download("Larrivhan/NeCast-simulations", "tools/necast_windows.py", repo_type="dataset") | |
| sys.path.insert(0, reader.rsplit("/", 1)[0]) | |
| from necast_windows import Fragment, diploid_genotypes, TIME_EDGES | |
| frag = Fragment(path) | |
| w = frag.window(0) | |
| w["genotypes"].shape # (n_sites, 128): 0/1, haplotypes 2i and 2i+1 are individual i | |
| w["missing"].sum() # missing calls (their genotype bit is 0) | |
| g = diploid_genotypes(w) # (n_sites, 64): 0, 1, 2, or -1 where a call is missing | |
| w["recombination_map"] # breakpoints (bp) and rates per bp per generation | |
| w["target_log10_ne"] # 64 labels on the intervals TIME_EDGES | |
| w["metadata"]["generator_recipe"] | |
| ``` | |
| The index is a parquet table, so `pandas.read_parquet("index/windows.parquet")` or the | |
| `datasets` library will load it. Filter it to pick windows, then read only the files you need. | |
| ## File format | |
| Each `fragment_XXXXXXXX.npz` holds four windows; ragged arrays are concatenated, and an | |
| `*_offsets` array of length 5 marks where each window starts. | |
| | array | type and shape | meaning | | |
| |---|---|---| | |
| | `sample_id` | str (4) | window identifiers | | |
| | `variant_positions_bp`, `variant_offsets` | uint32, int64 | site positions; window k is `[off[k], off[k+1])` | | |
| | `genotype_packed` | uint8 (sites, 16) | 128 haplotypes, 8 per byte; haplotype h is bit `h % 8` of byte `h // 8` (`numpy.unpackbits(..., bitorder="little")`) | | |
| | `missing_flat_idx`, `missing_offsets` | uint32, int64 | missing calls as row-major indices into the window's (sites, 128) matrix; the genotype bit of a missing call is 0 | | |
| | `obs_rec_pos`, `obs_rec_rate`, `obs_rec_offsets` | float64, float32, int64 | recombination map: breakpoints in bp and the rate (per bp per generation) between them; window k has one rate fewer than breakpoints, so rates for window k start at `sum(len_j - 1 for j < k)` | | |
| | `obs_mut_pos`, `obs_mut_rate`, `obs_mut_offsets` | the same | mutation map | | |
| | `target_log10_ne` | float32 (4, 64) | labels | | |
| | `pair_coalescences_per_bin`, `branch_length_per_bin` | float32 (4, 64) | true pairwise coalescences and branch length per interval | | |
| | `pair_coalescences_outside` | float64 (4, 2) | pairwise coalescences before the first and after the last interval | | |
| | `sequence_length`, `n_haplotypes`, `packed_hap_bytes` | int | 30,000,000; 128; 16 | | |
| | `source_id`, `demography_type_id`, `generator_recipe_id` | int16 (4) | codes; the names are in the metadata | | |
| | `generator_schema_version`, `missing_storage` | | format version (1) and the missing-call encoding | | |
| Variant sites include the false sites added as errors. Positions are sorted; a few windows have | |
| two sites at the same position. | |
| The `.jsonl.gz` file has one JSON object per window with every parameter of its history, maps | |
| and errors. The index carries the same fields, flattened: nested objects become `noise_*`, | |
| `rec_slice_*`, `mut_slice_*` and similar columns, and short lists are stored as JSON text. The | |
| epochs of each history (`demography_breaks` in generations ago, `demography_values` and | |
| `demography_growth_rates`, as passed to msprime) are in `index/histories.parquet` as numeric | |
| lists, one row per window. | |
| **Inputs and labels.** A method under test should read only the genotypes, the site positions, | |
| the stored maps, the sequence length and the sample size. Every other field describes how the | |
| window was made (the history, the errors, the map type, the labels) and is there for selecting | |
| windows and for scoring. | |
| ## Feature files (`features/`) | |
| All feature files cover the 104,996 train and development windows in one order: feature row r | |
| is window `splits/stages.json["feature_sample_ids"][r]`, and the index gives it as | |
| `feature_row`. NeCast reads 32 of the 64 individuals in a window; which 32 is fixed per window by | |
| a seeded permutation and stored in `features/level32/unphased_evidence_cache.npz` as | |
| `ladder_columns`. | |
| - `registry/` locates every train and development window in the fragment files | |
| (`raw_index.jsonl`), with a byte-exact read-back check for each one. | |
| - `level32/unphased_evidence_cache.npz` holds summary statistics of the 32 individuals: | |
| the folded site frequency spectrum, projected to 32 haplotypes to absorb missing calls | |
| (`folded_sfs_counts`); linkage disequilibrium between sites 1 to 64 sites apart, by genetic | |
| distance (`ld_features`, `ld_pair_counts`, with `ld_bin_edges_morgan` and `ld_lags`); | |
| lengths of identity-by-state tracts between pairs of individuals in 7 kinds and | |
| powers-of-two length classes (`ibs_counts`, `ibs_bin_edges_bp`); a Watterson estimate of the | |
| size level (`nw_log10`), which anchors the network's output; per-window context values | |
| (`context`); and the labels (`targets`). `features` and `coordinates` hold statistics over | |
| 32-kb sub-windows that the final network does not read. The network's site encoder reads the | |
| genotypes of the 32 individuals straight from the window files, found through `registry/`. | |
| - `psmcplus_posterior/level32.npz` holds PSMC+ posteriors for the same 32 individuals, | |
| decoded with the window's maps on the 64 intervals. The array is named `sidecar` | |
| (104,996 × 256): columns 0–63 are the mean over individuals of the posterior share of the | |
| window in each interval with a flat prior, 64–127 their standard deviation, and 128–255 the | |
| same after one refit of the prior. `sidecar_present` marks rows with a value. | |
| - `psmcplus_store/shards/` is the PSMC+ output these posteriors were cut from: every window | |
| (reserved ones included), four random sets of individuals, and sample sizes of 1, 2, 4, 8, 16 | |
| and 32. Each shard has `sample_id`, `features` (rows, 4 sets, 6 sizes, 256), `flags` (the | |
| number of individuals scored in each pass), `theta_cl` and `bin_cl` (the diversity θ and the | |
| bin size in bp the decoder used) and `meta` (mean mutation rate, mean recombination rate, | |
| number of sites, sequence length, seconds, and four counters). `builder/` has the scripts that made them and | |
| `logs.tar` their logs. | |
| ## Additional files (`additional/`) | |
| - `sample_size_levels/` has the summary statistics and PSMC+ posteriors for 1, 2, 4, 8 and 16 | |
| individuals (the first individuals of the same permutation). They were built for an earlier | |
| design in which the network read a variable number of individuals; the final network reads 32. | |
| - `psmcplus_converged/` has a PSMC+ posterior whose prior was refitted five times in a row | |
| instead of once, for 13,500 windows: a 12,500-window training subset spread evenly over | |
| variant counts, and the 500 validation and 500 test windows. The scripts and checks that made | |
| it are included. | |
| ## Generator (`generator/`) | |
| `generator/code/` is the simulator exactly as it ran (MIT licence), and `corpus_plan.json` the | |
| generation plan: configuration, seeds, and checksums of the maps and templates. The simulator | |
| shipped third-party data files: the deCODE and Roulette maps, the published human histories and | |
| the stdpopsim trajectories. They are not copied here. `generator/EXCLUDED_THIRD_PARTY.tsv` lists | |
| each one with its size, SHA-256 and source. The scripts that build the deCODE map and the | |
| stdpopsim trajectories are in `generator/code/simulator/assets/`, and `generator/roulette_map/` | |
| has the script that averaged the published Roulette rates into the 1-kb map used here. | |
| ## Checksums | |
| `sha256sum -c SHA256SUMS` checks every file. The checksums of the window files also match the | |
| receipts written when each file was generated (`windows/receipts.jsonl.gz`). | |
| ## Paths in provenance files | |
| Logs, plans and other provenance files were written on the machines that ran the jobs. Absolute paths in them use | |
| placeholders: `$WORK` and `$DATA` for the working directories, `$SW` for installed software and `~` for the home | |
| directory. Checksums recorded inside the files match the released files. | |
| ## Licence and sources | |
| The files here are released under CC BY 4.0. Please also cite the sources the windows build on: | |
| - msprime: Baumdicker et al. (2022), *Genetics* 220:iyab229. | |
| - deCODE recombination map: Halldorsson et al. (2019), *Science* 363:eaau1043. | |
| - Roulette mutation rates: Seplyarskiy et al. (2023), *Nature Genetics*. | |
| - Human size histories used as templates: Terhorst, Kamm and Song (2017), *Nature Genetics* | |
| 49:303 (SMC++); Terhorst (2025), *Nature Genetics* 57:2570 (phlash); Wang et al. (2020), | |
| *PLOS Genetics* 16:e1008552 (MSMC-IM). | |
| - stdpopsim: Adrion et al. (2020), *eLife* 9:e54967. | |
| - PSMC+: Cousins et al. (2024), *bioRxiv*. | |
| ## Citation | |
| The NeCast paper is in preparation; its reference will be added here. | |