population_site_stats
Per-site and per-sample genotype statistics of a call set, for all samples or one population: allele counts and frequencies, called and missing calls, heterozygous and homozygous counts, observed and expected heterozygosity and the inbreeding coefficient F (scikit-allel), and the exact Hardy–Weinberg test with its excess-heterozygosity tail (bcftools +fill-tags). Validated on every site and sample of 1000 Genomes phase 3 APOL1 in 32 groups.
Input Schema
| Name | Required | Description | Default |
|---|---|---|---|
| vcf | Yes | the call set as VCF text (a .vcf, or a .vcf.gz already decompressed); every record's GT is read, ploidy 2. | |
| group | No | compute over this group's samples only; empty is every sample. | |
| _files | No | The project: record references shaped like _subject. Their records become library documents a tool names in sequences/parts/document; a trace or alignment is found by file name. | |
| groupBy | No | which column of the sample table groups the samples; empty is its first grouping column. | |
| _subject | No | The record to act on: exactly one of sequence, accession (+source), sample (an id from list_samples) or file ({name, text} or {name, base64}); record_index picks one record of several. | |
| populations | No | a sample table: a header row with a `sample` column and one or more grouping columns (tab-separated, as 1000 Genomes' .panel). Samples it does not list belong to no group. |
Output Schema
| Name | Required | Description | Default |
|---|---|---|---|
| sites | Yes | one row per record: chrom, pos, ref, alts, allele counts and frequencies, AN, called, missing, het, homRef, homAlt, ho, he, f, hwe and excHet per ALT | |
| samples | Yes | one row per sample: its group, called, missing, het, homAlt and the missing and het rates | |
| summary | Yes | sites, samples, segregating, biallelic and multiallelic sites, mean Ho and He, and the sites with the smallest HWE p-values |