The genetic data were collected, curated, and sequenced as part of many, many projects – we have over 300 data contributors for gnomAD v4! All contributors and projects are listed on our About page: gnomad.broadinstitute.org/about 3/6
Of course, gnomAD isn’t a reference population resource without the individuals who agreed to participate in research and shared their genetic information. To all of you: thank you for contributing. You are the heart of gnomAD. 2/6
It’s the final day of giving thanks for the teams that make gnomAD possible. Today is focused on the participants in studies, data contributors (>300!), the Scientific Advisory Board, and our steering committee. 1/6
For both CNVs and SVs, Ryan Collins provided feedback and guidance, with leadership spearheaded by Harrison Brand and Mike Talkowski. Want to generate these types of callsets? Check out GATK-gCNV and GATK-SV: app.terra.bio#workspaces/h...github.com/broadinstitu... 4/4
Calling and quality control of the SVs was performed by Xuefang Zhao, Mark Walker, Chris Whelan, Nehir Kurtas, and Emma Pierce-Hoffman. More details and summary of the findings are here: gnomad.broadinstitute.org/news/2023-11... 3/4
On the CNV side, Jack Fu and Isaac Wong generated the callset with quality control performed by Jack, Cal Liao, Lily Wang, and Daniel Ben-Isvy. You can read more about it here: gnomad.broadinstitute.org/news/2023-11... 2/4
Day four of giving thanks to the teams that make gnomAD happen is focused on the CNV and SV teams! v4 is the first time we released structural variants at the same time as SNVs/indels, specifically: - CNVs from 464,297 exomes - SVs from 63,046 genomes 1/4
Finally, an extra shout-out to Samantha Baxter (@sambaxter.bsky.social), our scientific operations manager. She took on the majority of the FAQ overhaul, kept the steering committee on track with help from Katherine Chao, and made the gnomAD heart logo I keep using. 5/5
A truly herculean effort was put in by Samantha Baxter, Sinéad Chapman, Christine Stevens, and Caroline Cusick to wrangle all of the metadata associated with v4. It was a massive undertaking to set up the infrastructure to pull together all of these sequencing data from across studies. 4/5
We were also reliant on insights from Laura Gauthier, Samuel Lee, and other members of the Data Sciences Platform, and to many members of the Hail team (Dan King, Chris Vittal, Tim Poterba, Jackie Goldstein, Daniel Goldstein) for producing the callset and help with compute. 3/5