The Genome Aggregation Database (gnomAD), originally launched in 2014 as the Exome Aggregation Consortium (ExAC), is a coalition of investigators seeking to aggregate and harmonize exome and genome sequencing data from a variety of large-scale sequencing projects, and to make summary data available for the wider scientific community. The project is overseen by co-directors Heidi Rehm and Mark Daly, and steering committee members Samantha Baxter, Katherine Chao, Julia Goodrich, Konrad Karczewski, Daniel MacArthur, Benjamin Neale, Anne O'Donnell-Luria, Kaitlin Samocha, Matthew Solomonson, and Michael Talkowski. The gnomAD database is composed of exome and genome sequences from around the world. We have removed cohorts that were recruited for pediatric disease, as well as their first- and second-degree relatives, so these data sets should serve as useful reference sets of allele frequencies for severe pediatric disease studies - however, note that some individuals with severe disease may still be included in the data sets such as biobanks, albeit likely at a frequency equivalent to or lower than that seen in the general population. This dataset contains the 3.1 release of gnomAD...
This collection is openly accessible.
gnomAD is published on Biomedical AI.