#gnomad — Public Fediverse posts

hey, there is a js API for gnomad ! https://gnomad.broadinstitute.org/api/

#genetics #gnomad

```
{
gene(gene_symbol: "SCN5A", reference_genome: GRCh37) {
hgnc_id
ncbi_id
omim_id
name
canonical_transcript_id
}
}
```

https://www.nature.com/articles/s41588-023-01608-3 "Inferring compound heterozygosity from large-scale exome sequencing data" #gnomad v3

https://www.nature.com/articles/s41586-023-06045-0 "A genomic mutational constraint map using variation in 76,156 human genomes" (#gnomad v3)

"we are delighted to announce the release of #gnomAD v4, which includes data from 807,103 total individuals. This release is nearly 5x larger than the combined v2/v3 (...) including 416,555 individuals from the #UKBiobank" https://gnomad.broadinstitute.org/news/2023-11-gnomad-v4-0/ #genetics #genomics

Genome sequencing data from consortia is staggeringly large. A recent release of the #gnomAD project released whole genome sequencing data from 15 708 samples.

https://www.nature.com/articles/d41586-020-01485-4

If you have high quality whole genome sequencing data, say at 30X coverage, 1 person's entire genome, encoding only the base calls, would be ~ 1GB. With quality controls and other information, this can be ~ 3 GB of raw sequencing data.

That means this dataset would be ~ 46 TB of raw data, alone