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@popgen-toolbox/genotype-io

v1.0.0

Published

Tools for working with population genetics file formats in JavaScript/TypeScript

Readme

@popgen-toolbox/genotype-io

Streaming parsers for PLINK .bed/.bim/.fam genotype files, built on Web Streams so large .bed/.bim files can be processed chunk-by-chunk without loading them fully into memory. Works the same in a browser tab or a Node script (Node's fetch response bodies are ReadableStreams too).

Source: popgen-toolbox.

Install

npm install @popgen-toolbox/genotype-io

Usage

import { readFamFile, streamBimFile, streamBedFile, readPlink } from "@popgen-toolbox/genotype-io/plink";

const famText = await fetch(".../sample.fam").then(r => r.text());
const indEntries = readFamFile(famText); // { indNames, popNames }[]

// or process a whole trio together, streaming SNP-by-SNP:
const { indEntries, genotypeStream } = await readPlink({
  famStream: await fetch(".../sample.fam").then(r => r.body),
  bimStream: await fetch(".../sample.bim").then(r => r.body),
  bedStream: await fetch(".../sample.bed").then(r => r.body),
});

const reader = genotypeStream.getReader();
for (let r = await reader.read(); !r.done; r = await reader.read()) {
  const [snpEntry, genotypes] = r.value; // genotypes: Uint8Array, one byte per individual
}

Exports

  • @popgen-toolbox/genotype-io/plink
    • readFamFile(text){ indNames: string, popNames: string }[]
    • streamBimFile(stream)ReadableStream of { snpIDs, chromosomes, positions, alleles1, alleles2 } per SNP line
    • streamBedFile(stream, indCount)ReadableStream<Uint8Array>, one genotype-call byte per individual per SNP block (0/1/2/3 for hom-ref/het/hom-alt/missing)
    • readPlink({ famStream, bimStream, bedStream }) → combines all three into { indEntries, genotypeStream }, the latter yielding [snpEntry, genotypes] pairs
  • @popgen-toolbox/genotype-io/utils
    • streamLines(stream)ReadableStream<string>, decoding and splitting a byte stream into text lines

License

MIT