Genome Aggregation Database
@gnomad_project
The world's largest open resource of human genetic variation. For help please use http://broad.io/gnomad_forum; feature requests/bug reports to http://broad.io/gnomad_github
Honored to be spotlighted by @globalbiodata this week.
Our featured GCBR of the week is The Genome Aggregation Database (gnomAD) which aggregates and harmonises both exome and genome sequencing data from large-scale sequencing projects. Click the link to find out more bit.ly/3GPBgsp @NIH
Proportion expressed across transcripts (pext), using GTEx v10, is now available on #gnomAD v4!
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…
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
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
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…
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…
Please take a few minuets to provide feedback to the #hail team!
Hey all! We are running a survey to solicit broad-based feedback from users & *non-users* of Hail Query. We'd like to hear from anyone who analyzes sequencing or genotype-chip datasets! All questions optional, fully anonymous, & takes <=10min! forms.gle/ucgu9h35UEkB68…
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
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
QC of v4 required analyzing over 1 BILLION variants! More than 910 million variants passed our filters and are available on our browser broad.io/gnomad. More details on this variant dataset are available on our new stats page broad.io/gnomad_stats (3/11)
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 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
Our genetic ancestry blog broad.io/gnomad_ancestry discusses our efforts to improve representation in #gnomAD, how we label groups and how the diversity in gnomAD is improving genomic filtration. (4/11)