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The mutational constraint spectrum quantified from variation in 141,456 humans

2020; Bioscientifica; Linguagem: Inglês

10.1530/ey.17.14.3

1662-4009

Konrad J. Karczewski, Laurent C. Francioli, Daniel G. MacArthur,

Genetics and Neurodevelopmental Disorders

The Genome Aggregation Database (gnomAD) Consortium https://gnomad.broadinstitute.org compiled data on ˜125,000 exomes and ~15,000 whole genomes from populations around the world. This is one of seven articles (also see Refs 1–6) describing their initial discoveries, showing the power of this vast dataset, and presenting a more complete catalog of loss-of-function variants, which disrupt the encoded proteins. This is an important tool to help inform the diagnosis of rare genetic diseases in our patients. It also provides fundamental insights into which of our genes appear to be essential, by quantifying how many loss-of-function variants are present in each gene in humans.