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A Genome-Wide Mutational Constraint Map Quantified from Variation in 76,156 Human Genomes

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

bioRxiv（2022）

Cited 155|Views74
Key words
genome annotation,Genetic Code,sequence variation
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