Nature · 2020

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

Karczewski KJ, Francioli LC, Tiao G, Cummings BB, Alföldi J, Wang Q, Collins RL, Laricchia KM, Ganna A, Birnbaum DP, Gauthier LD, Brand H, Solomonson M, Watts NA, Rhodes D, Singer-Berk M, England EM, Seaby EG, Kosmicki JA, Walters RK, Tashman K, Farjoun Y, Banks E, Poterba T, Wang A, Seed C, Whiffin N, Chong JX, Samocha KE, Pierce-Hoffman E, Zappala Z, O'Donnell-Luria AH, Minikel EV, Weisburd B, Lek M, Ware JS, Vittal C, Armean IM, Bergelson L, Cibulskis K, Connolly KM, Covarrubias M, Donnelly S, Ferriera S, Gabriel S, Gentry J, Gupta N, Jeandet T, Kaplan D, Llanwarne C, Munshi R, Novod S, Petrillo N, Roazen D, Ruano-Rubio V, Saltzman A, Schleicher M, Soto J, Tibbetts K, Tolonen C, Wade G, Talkowski ME, Genome Aggregation Database Consortium, Neale BM, Daly MJ, MacArthur DG.

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Karczewski KJ — Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA. konradk@broadinstitute.org.
Francioli LC — Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Tiao G — Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Cummings BB — Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Alföldi J — Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Wang Q — Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Collins RL — Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Laricchia KM — Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Ganna A — Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Birnbaum DP — Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Gauthier LD — Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Brand H — Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Solomonson M — Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Watts NA — Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Rhodes D — Centre for Translational Bioinformatics, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London and Barts Health NHS Trust, London, UK.
Singer-Berk M — Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
England EM — Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Seaby EG — Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Kosmicki JA — Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Walters RK — Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Tashman K — Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Farjoun Y — Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Banks E — Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Poterba T — Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Wang A — Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Seed C — Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Whiffin N — Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Chong JX — Department of Pediatrics, University of Washington, Seattle, WA, USA.
Samocha KE — Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.
Pierce-Hoffman E — Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Zappala Z — Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
O'Donnell-Luria AH — Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Minikel EV — Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Weisburd B — Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Lek M — Department of Genetics, Yale School of Medicine, New Haven, CT, USA.
Ware JS — Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Vittal C — Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.
Armean IM — Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Bergelson L — Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Cibulskis K — Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Connolly KM — Broad Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Covarrubias M — Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Donnelly S — Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Ferriera S — Broad Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Gabriel S — Broad Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Gentry J — Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Gupta N — Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Jeandet T — Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Kaplan D — Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Llanwarne C — Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Munshi R — Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Novod S — Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Petrillo N — Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Roazen D — Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Ruano-Rubio V — Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Saltzman A — Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Schleicher M — Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Soto J — Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Tibbetts K — Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Tolonen C — Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Wade G — Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Talkowski ME — Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Neale BM — Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Daly MJ — Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
MacArthur DG — Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA. d.macarthur@garvan.org.au.