A genomic mutational constraint map using variation in 76,156 human genomes.

doi:10.1038/s41586-023-06045-0

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Article

A genomic mutational constraint map using variation in 76,156 human genomes.

Nature - 1 Jan 2024

Chen Siwei, Francioli Laurent C, Goodrich Julia K, Collins Ryan L, Kanai Masahiro, Wang Qingbo, Alföldi Jessica, Watts Nicholas A, Vittal Christopher, Gauthier Laura D, Poterba Timothy, Wilson Michael W, Tarasova Yekaterina, Phu William, Grant Riley, Yohannes Mary T, Koenig Zan, Farjoun Yossi, Banks Eric, Donnelly Stacey, Gabriel Stacey, Gupta Namrata, Ferriera Steven, Tolonen Charlotte, Novod Sam, Bergelson Louis, Roazen David, Ruano-Rubio Valentin, Covarrubias Miguel, Llanwarne Christopher, Petrillo Nikelle, Wade Gordon, Jeandet Thibault, Munshi Ruchi, Tibbetts Kathleen, O'Donnell-Luria Anne, Solomonson Matthew, Seed Cotton, Martin Alicia R, Talkowski Michael E, Rehm Heidi L, Daly Mark J, Tiao Grace, Neale Benjamin M, MacArthur Daniel G, Karczewski Konrad J

Abstract excerpt

The depletion of disruptive variation caused by purifying natural selection (constraint) has been widely used to investigate protein-coding genes underlying human disorders1-4, but attempts to assess constraint for non-protein-coding regions have proved more difficult. Here we aggregate, process and release a dataset of 76,156 human genomes from the Genome Aggregation Database (gnomAD)-the largest public...

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PMID: 38057664
DOI: 10.1038/s41586-023-06045-0
PMCID: PMC11629659

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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