We are aware of an issue in the gnomAD v4.0 exomes where well covered variants have lower than expected allele numbers. This issue will be fixed in the upcoming v4.1 release. For more information, see our write-up here.

Posts by Michael Talkowski


The news page highlights new features, versions, or other major announcements. See our changelog for all changes to gnomAD, including minor ones.

Rare coding CNVs from exome sequenced individuals in gnomAD v4

As a part of gnomAD V4, we are excited to include our first gnomAD release of rare (<1% overall site frequency) autosomal coding copy number variants (CNVs) from exome-sequencing (ES) in 464,297 individuals. These data are available to explore in the user-friendly gnomAD browser (https://gnomad.broadinstitute.org/), while the complete annotated rare CNV callset can be downloaded directly from the downloads page.