Today, we are thrilled to announce the release of genome-wide structural variants (SVs) for 63,046 unrelated samples with genome sequencing…
Posts by Harrison Brand
The news page highlights new features, versions, or other major announcements. See our changelog for all changes to gnomAD, including minor ones.
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.
Originally published on the MacArthur Lab blog.
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.