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Genome Aggregation Database (gnomAD)

@gnomad-project.bsky.social

The world's largest open resource of human genetic variation. For help please use broad.io/gnomad_forum; feature requests/bug reports to broad.io/gnomad_github

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Genome Aggregation Database (gnomAD) @gnomad-project.bsky.social · 22/11/2024

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

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Genome Aggregation Database (gnomAD) @gnomad-project.bsky.social · 04/06/2024

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

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Genome Aggregation Database (gnomAD) @gnomad-project.bsky.social · 06/12/2023

A special congratulations to Konrad Karczewski, Siwei Chen, @ksamocha.bsky.social and Mike Guo for all their hard work on these publications. Read more about this work at www.nature.com/articles/d41... (2/2)

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Genome Aggregation Database (gnomAD) @gnomad-project.bsky.social · 06/12/2023

The #gnomAD v3 papers are now published! This includes the non-coding constraint paper broad.io/gnomAD_v3_non_coding & inferring compound heterozygosity paper broad.io/gnomAD_v3_comp_het Congratulations to everyone who contributed to this valuable work! (1/2)

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Genome Aggregation Database (gnomAD) @gnomad-project.bsky.social · 02/11/2023

The full gnomAD v4 launch team was composed of multiple groups at the Broad spanning the MPG and DSP programs as listed below, with most data generated by @BroadGenomics. Thank you!!! (9/11)

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Genome Aggregation Database (gnomAD) @gnomad-project.bsky.social · 02/11/2023

To learn more about the technical details of how this data was generated read our blog posts broad.io/gnomad_v4_sv and broad.io/gnomad_v4_cnv. If you are attending #ASHG23 please attend Jack Fu’s talk today (11/2) at 1:45pm in rm 202A (2/2)

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Genome Aggregation Database (gnomAD) @gnomad-project.bsky.social · 02/11/2023

As part of #gnomAD v4, in collaboration with the Talkowski Lab, we have released 1,199,117 genome SVs and 66,903 rare exome CNVs. These data represent the first gnomAD SV dataset released native to the GRCh38 reference genome. (1/2)

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Genome Aggregation Database (gnomAD) @gnomad-project.bsky.social · 01/11/2023

The #gnomAD team is proud to announce the release of gnomAD v4! The v4 dataset includes 730,947 exomes & 76,215 genomes, which is ~5x larger than the v2 & v3 releases combined, & includes nearly 120K indivs of non-European genetic ancestry broad.io/gnomad #ASHG23 (1/11)

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