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To learn more about the impact of diversity on variant discovery and gene constraint please attend Katherine Chao’s #ASHG23 talk tomorrow (11/4) at 11am in rm 202A

Gene constraint is now available on #gnomAD v4! This is the first time we have had constraint data available on GRCh38. Katherine Chao will be covering this work during her talk at #ASHG23 tomorrow (11/4) at 11am in rm 202A.

To learn more about what is involved with QCing the gnomAD v4 dataset please attend Julia Goodrich’s #ASHG23 talk today (11/4) at 10:30am in ballroom B

As part of v4, we are happy to announce the launch of the #gnomAD forum broad.io/gnomad_forum. This will be a place for our users to help each other, discuss the data and ask questions. #ASHG23

Please take a few minuets to provide feedback to the #hail team!

Thrilled to have our work on gnomAD out in print at Nature today. With 76K genomes, we can look beyond the coding genome and into the non-coding genome to find regions important for human disease nature.com/articles/s4158…

Our paper describing a way to infer the phase of rare variant pairs using gnomAD v2 is out now in Nature Genetics. We hope that the resource we generated will be useful when interpreting rare co-occurring variants in the context of recessive disease. nature.com/articles/s4158…

gnomAD 4.1 is now live! This release fixes the AN issue in #gnomAD v4.0 & adds 2 new functionalities: 1) Joint AN across all called sites in exomes and genomes 2) A flag indicating when exomes and genomes frequencies are highly discordant Learn more at broad.io/gnomad_v4-1

GeniE, the genetic prevalence estimator, is now available! broad.io/genie This tool allows users to estimate the genetic prevalence of autosomal recessive diseases using #gnomAD allele frequency data & classifications from #ClinVar Blog post: broad.io/genie_blog

I'm excited to announce that we have generated local ancestry informed allele frequencies for the inferred African/African American genetic ancestry group of gnomAD v4.0, live now on the browser! gnomad.broadinstitute.org/news/2024-10-l…

Proportion expressed across transcripts (pext), using GTEx v10, is now available on #gnomAD v4!

Honored to be spotlighted by GlobalBiodata this week.