We updated our gene constraint metrics following the release of gnomAD v4.0. gnomAD v4.0 expanded the scale of our constraint calculations…
Posts by Kristen Laricchia
News
The news page highlights new features, versions, or other major announcements. See our changelog for all changes to gnomAD, including minor ones.
Advancing the AI/ML-Readiness of gnomAD Data with GA4GH Genomic Knowledge Standards
Overview
We have expanded our representation of gnomAD v4 data to include data specifications from the Genomic Knowledge Standards Work…
gnomAD v3.1 Mitochondrial DNA Variants
Overview
Mitochondrial DNA (mtDNA) variants for gnomAD are now available for the first time! We have called mtDNA variants for 56,434 whole genome samples in the v3.1 release. This initial release includes population frequencies for 10,850 unique mtDNA variants defined at more than half of all mtDNA bases. The vast majority of variant calls (98%) are homoplasmic or near homoplasmic, whereas 2% are heteroplasmic. Variation in mitochondrial genomes contributes to many human diseases and has had unique value in the study of human evolutionary genetics. We hope that the addition of mtDNA to gnomAD will enable researchers to better understand the role of mtDNA variation in both health and disease states.
Previous gnomAD callsets have not included mtDNA variants because their properties do not fit the assumptions that we use with our nuclear variant calling pipeline. These properties include: