gnomAD 2.0 release

[Konrad Karczewski]

Hi ExAC enthusiasts,

We are happy to announce the release of the genome Aggregation Database (gnomAD). This release consists of two callsets: exome sequence data from 123,126 individuals and whole genome sequencing from 15,496 individuals. While we provided a provisional release at ASHG in October with the gnomAD browser, today's release provides a much more carefully filtered dataset. This dataset is now available on the browser at http://gnomad.broadinstitute.org and for download at http://gnomad.broadinstitute.org/downloads.

A detailed description on the release is available at https://macarthurlab.org/2017/02/27/the-genome-aggregation-database-gnomad.

For those who have been waiting for an ExAC 1.0 release, this is also now available, though obviously immediately somewhat obsolete. This release is largely identical to 0.3.1 with some minor VCF bugfixes, newly annotated with VEP v85 and LOFTEE v0.3, and all annotations are applied to all subsets (full dataset, non-TCGA, non-psych). Additionally, this release features histograms of ages for allele carriers (these will become available for the larger gnomAD dataset at some point in the future).

Happy exploring,

-Konrad