Read the gnomAD Papers

We are excited to announce the release of seven manuscripts based on the analyses of the gnomAD v2 dataset which spans exomes and genomes from 141,456 individuals. First released in 2014 as ExAC, gnomAD is now the largest publicly available catalog of human genetic variation. This set of papers presents several discoveries from this massive dataset including characterization of loss-of-function variants, and how they can inform drug discovery; a map of nearly 500,000 unique structural variants from the analysis of ~15,000 genomes; and describes new tools to aid clinical geneticists in assessment of variants. Heidi Rehm and Mark Daly now lead the gnomAD project and have plans to expand the resource with an ever-increasing number of samples from major contributing projects such as the UK Biobank, the AllofUs program, and others, in the future.

We want to thank all of the gnomAD consortium PIs who have graciously contributed their data to the resource, and the research participants in their studies, without which this work would not have been possible.

Learn more in a Broad news story.

Read the open-access paper collection here.

Image credit: SciStories