Genome Aggregation Database (gnomAD)
banner
gnomad-project.bsky.social
Genome Aggregation Database (gnomAD)
@gnomad-project.bsky.social
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
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)
December 6, 2023 at 6:21 PM
Keep an eye on this account for the next few days to learn more about our methods including structural variation, genomic ancestry, and our QC process (11/11)
November 2, 2023 at 1:51 PM
And of course, a special thank you to the 308 gnomAD data contributors and all the individuals who have enrolled in research. Without their willingness to share data and participate in research, gnomAD would not exist! gnomad.broadinstitute.org/about (10/11)
November 2, 2023 at 1:51 PM
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)
November 2, 2023 at 1:50 PM
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)
November 2, 2023 at 12:58 PM
A special thanks to the hail team (hail.is), especially Tim Poterba, Chris Vittal, Dan King, Jackie Goldstein, and Daniel Goldstein for all their work on this release. (8/11)
November 1, 2023 at 6:38 PM
Thank you to our browser team, especially @msol.bsky.social, Phil Darnowsky, Riley Grant,  @stephenjahl.bsky.social and Elissa Alarmani, who put in long hours and late nights these last few weeks to get us over the line! (7/11)
November 1, 2023 at 6:37 PM
We would like to thank the entire gnomAD Production Team broad.io/gnomad_team especially Julia Goodrich, Katherine Chao, Mike Wilson, Kristen Laricchia, and @sambaxter.bsky.social who did a massive push over the last few months to release v4 in time for #ASHG23 (6/11)
November 1, 2023 at 6:36 PM
If you are attending #ASHG23 please stop by the @BroadInstitute Clinical Lab booth (#938) during our #gnomAD office hours to meet the team, ask questions, and learn more about v4. (5/11)

11/2 & 11/3: 10-10:45am, 3-5pm
11/4: 10-10:45am, 2:15-4:15pm

 #ASHG2023
November 1, 2023 at 6:36 PM
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)
November 1, 2023 at 6:35 PM
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)
November 1, 2023 at 6:35 PM
Development of v4 involved jointly calling almost 1 million samples, which is the largest callset ever made at the @broadinstitute. Working at this scale required extensive collaboration across the Broad. Learn what went into making v4 read our blog broad.io/gnomad_v4 (2/11)
November 1, 2023 at 6:35 PM