Thank you to everyone who completed the 2024 gnomAD user survey. Your feedback is invaluable in helping us improve gnomAD for all users. In…
Posts by Samantha Baxter
News
The news page highlights new features, versions, or other major announcements. See our changelog for all changes to gnomAD, including minor ones.
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.
gnomAD Selected as Global Core Biodata Resource
We are excited to announce that gnomAD has been included in the inaugural list of Global Core Biodata Resources (GCBR). GCBRs are selected…