We have released a new utility, the gnomAD toolbox, to enable easier analysis of gnomAD data. Community feedback has highlighted challenges…
Posts by Katherine Chao
News
The news page highlights new features, versions, or other major announcements. See our changelog for all changes to gnomAD, including minor ones.
Local Ancestry Inference for African/African American Samples in gnomAD
Announcement
We have now released an extension of local ancestry-informed frequency work from the inferred Admixed American genetic ancestry group to the inferred African/African American genetic ancestry group (n=20,805) within gnomAD v4.0. This implementation of local ancestry inference (LAI) resolves the admixed ancestries of African/African American samples into their respective African and European haplotypes, leading to better-informed functional and/or clinical classifications.
gnomAD v4.1
We have released gnomAD v4.1, an update to our latest major release. This update fixes the allele number issue in gnomAD v4.0 previously…
gnomAD v4.0 Gene Constraint
We updated our gene constraint metrics following the release of gnomAD v4.0. gnomAD v4.0 expanded the scale of our constraint calculations…
gnomAD v4.0
Today, we are delighted to announce the release of gnomAD v4, which includes data from 807,162 total individuals. This release is nearly 5x…
Genetic Ancestry
A critical component to the medical and functional interpretation of genetic variants involves the accurate estimation of their frequency. A…
Structural Variants in gnomAD v4
Today, we are thrilled to announce the release of genome-wide structural variants (SVs) for 63,046 unrelated samples with genome sequencing…
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 v3.1.2 minor release
In this minor release of gnomAD v3.1, we include the following improvements to the previous release: a fix to the homozygous alternate allele depletion adjustment that was made for v3.1 and several updates to the gnomAD v3.1 Human Genome Diversity Project (HGDP) and 1000 Genomes (1KG) subset release.