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The Mutational Constraint Spectrum Quantified from Variation in 141,456 Humans.

Sanna Gudmundsson,Konrad J. Karczewski,Laurent C. Francioli,Grace Tiao,Beryl B. Cummings,Jessica Alföldi,Qingbo Wang,Ryan L. Collins,Kristen M. Laricchia,Andrea Ganna,Daniel P. Birnbaum,Laura D. Gauthier,Harrison Brand,Matthew Solomonson,Nicholas A. Watts,Daniel Rhodes,Moriel Singer-Berk,Eleina M. England,Eleanor G. Seaby,Jack A. Kosmicki,Raymond K. Walters,Katherine Tashman,Yossi Farjoun,Eric Banks,Timothy Poterba,Arcturus Wang,Cotton Seed,Nicola Whiffin,Jessica X. Chong,Kaitlin E. Samocha,Emma Pierce-Hoffman,Zachary Zappala,Anne H. O’Donnell-Luria,Eric Vallabh Minikel,Ben Weisburd,Monkol Lek,James S. Ware,Christopher Vittal,Irina M. Armean,Louis Bergelson,Kristian Cibulskis,Kristen M. Connolly,Miguel Covarrubias,Stacey Donnelly,Steven Ferriera,Stacey Gabriel,Jeff Gentry,Namrata Gupta,Thibault Jeandet,Diane Kaplan,Christopher Llanwarne,Ruchi Munshi,Sam Novod,Nikelle Petrillo,David Roazen,Valentin Ruano-Rubio,Andrea Saltzman,Molly Schleicher,Jose Soto,Kathleen Tibbetts,Charlotte Tolonen,Gordon Wade,Michael E. Talkowski,Carlos A. Aguilar Salinas,Benjamin M. Neale,Mark J. Daly,Daniel G. MacArthur

Nature（2021）

Cited 6509|Views71
Key words
Medical genomics,Rare variants,Science,Humanities and Social Sciences,multidisciplinary
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