All posts by Ryan L. Collins

About Ryan L. Collins

Ryan is Ph.D. Candidate at Harvard Medical School, a NSF graduate research fellow in the Talkowski Laboratory at Massachusetts General Hospital and The Broad Institute, and a close collaborator/unofficial member of the MacArthur lab

Structural variants in gnomAD

Ryan Collins, Harrison Brand, Daniel MacArthur, and Mike Talkowski

The first gnomAD structural variant (SV) callset is now available via the gnomAD website and integrated directly into the gnomAD Browser.

This initial gnomAD SV callset includes nearly a half-million distinct SVs across seven SV mutational classes and 13 subclasses of complex SVs detected in 14,891 genomes spanning four major global populations. In the publicly released callset and gnomAD browser, you can find site, frequency, and annotation data for ~445k SVs from 10,738 unrelated genomes with appropriate consent to allow the release of this information.
In this post we summarize how we created this new call set, and some important practical considerations when using it. You can get more details, including callset generation and analyses, in the full gnomAD-SV preprint available on bioRxiv.

Overview of the gnomAD-SV cohort and callset
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