Volume 581 Issue 7809, 28 May 2020
In this week’s issue, four papers provide in-depth insights gleaned from the Genome Aggregation Database (gnomAD). A successor to 2016’s ExAC database, which held the exomes of 60,706 individuals, gnomAD aggregates 125,748 exomes and 15,708 whole-genome sequences. This increase in size and scope has allowed the gnomAD Consortium to catalogue not only single nucleotide variants between individuals but also more complex structural variants, made up of 50 or more nucleotides. In the main paper, Konrad Karczewski and colleagues review the database and explore variants that can inactivate protein-coding genes. In a second paper, Beryl Cummings and co-workers show that RNA expression data can be used to guide variant interpretation. In another paper, Eric Minikel and colleagues probe how the gnomAD data might help to identify genetic targets for drugs. And in the fourth paper, Ryan Collins and co-workers set out a catalogue of 433,371 structural variants and analyse them for their influence on physiological traits.