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Release

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.

GeniE, the Genetic Prevalence Estimator

Overview

Today we announce the release of a new tool, the Genetic Prevalence Estimator (GeniE, https://genie.broadinstitute.org), which uses gnomAD allele frequencies to estimate the genetic prevalence of autosomal recessive diseases. This tool was developed in partnership with the Chan Zuckerberg Initiative Rare as One Network. By removing the need for computational expertise, GeniE makes estimating the genetic prevalence of rare recessive disease more accessible to the entire genomics community.