gnomAD at a glance

More than three petabytes of raw data were contributed to the project from independent human sequencing studies led by more than 100 investigators, and then processed into 35 terabytes of high-quality variant data.

The gnomAD papers report 241 million small genetic variants (single nucleotide variants and short insertion/deletion variants) and 335,470 structural variants (DNA rearrangements of at least 50 base pairs), compared with 7.4 million small genetic variants identified in gnomAD’s predecessor, the Exome Aggregation Consortium (ExAC, which did not analyse structural variation).

gnomAD includes exomes and genomes from European, Latino African and African American, South Asian, East Asian, Ashkenazi Jewish and other populations.

The analyses detected 443,769 predicted loss-of-function (pLoF) genetic variants in protein-coding genes in the whole-exome sequencing data. These are genetic variants that are predicted to prematurely truncate the protein (stop-gained), or to profoundly change the protein sequence owing to a shift in translational frame (frameshift) or the alternative inclusion or exclusion of exons (splice variant).

There are 1,815 genes for which biallelic pLoF variants (where both copies of a gene are likely to be inactive) are found in at least one individual in the gnomAD database, suggesting that humans can tolerate the loss of these genes or of their function.

The predecessor of gnomAD, the Exome Aggregation Consortium (ExAC), has been mentioned and used in over 4,000 publications since it was first reported in Nature in August 2016. (source: Web of Science, May 2020)

The gnomAD team is already expanding the resource further and has recently released gnomAD v3, which contains 71,702 genomes.