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Posts by Michael Talkowski

News

The news page highlights new features, versions, or other major announcements. See our changelog for all changes to gnomAD, including minor ones.

Structural Variants in gnomAD v4

Xuefang Zhao, Ryan Collins, Mark Walker, Phil Darnowsky, Katherine Chao, Harrison Brand, Michael Talkowski, gnomAD SV team

Today, we are thrilled to announce the release of genome-wide structural variants (SVs) for 63,046 unrelated samples with genome sequencing…

Rare coding CNVs from exome sequenced individuals in gnomAD v4

November 01, 2023 in Announcements / Releases

Jack Fu, Cal Liao, Ryan Collins, Lily Wang, Daniel Ben-Isvy, Harrison Brand, Michael Talkowski, Elissa Alarmani, gnomAD SV team

As a part of gnomAD V4, we are excited to include our first gnomAD release of rare (<1% overall site frequency) autosomal coding copy number variants (CNVs) from exome-sequencing (ES) in 464,297 individuals. These data are available to explore in the user-friendly gnomAD browser (https://gnomad.broadinstitute.org/), while the complete annotated rare CNV callset can be downloaded directly from the downloads page.