On May 27, 2020, an analyses of the largest publicly available catalog of human genomic data revealed new details on rare types of genetic variation and provide better tools for genetic disease diagnosis and drug development. The Genome Aggregation Database (gnomAD) Consortium (and its predecessor, the Exome Aggregation Consortium, or ExAC) compiled and studied more than 125,000 exomes and 15,000 whole genomes from populations around the world.

In seven papers published in Nature, Nature Communications, and Nature Medicine, gnomAD Consortium scientists describe their first set of discoveries from the database, showing the power of this vast collection of data.