A deep catalogue of protein-coding variation in 983,578 individuals.

doi:10.1038/s41586-024-07556-0

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Article

A deep catalogue of protein-coding variation in 983,578 individuals.

Nature - 1 Jul 2024

Sun Kathie Y, Bai Xiaodong, Chen Siying, Bao Suying, Zhang Chuanyi, Kapoor Manav, Backman Joshua, Joseph Tyler, Maxwell Evan, Mitra George, Gorovits Alexander, Mansfield Adam, Boutkov Boris, Gokhale Sujit, Habegger Lukas, Marcketta Anthony, Locke Adam E, Ganel Liron, Hawes Alicia, Kessler Michael D, Sharma Deepika, Staples Jeffrey, Bovijn Jonas, Gelfman Sahar, Di Gioia Alessandro, Rajagopal Veera M, Lopez Alexander, Varela Jennifer Rico, Alegre-Díaz Jesús, Berumen Jaime, Tapia-Conyer Roberto, Kuri-Morales Pablo, Torres Jason, Emberson Jonathan, Collins Rory, Cantor Michael, Thornton Timothy, Kang Hyun Min, Overton John D, Shuldiner Alan R, Cremona M Laura, Nafde Mona, Baras Aris, Abecasis Gonçalo, Marchini Jonathan, Reid Jeffrey G, Salerno William, Balasubramanian Suganthi

Abstract excerpt

Rare coding variants that substantially affect function provide insights into the biology of a gene1-3. However, ascertaining the frequency of such variants requires large sample sizes4-8. Here we present a catalogue of human protein-coding variation, derived from exome sequencing of 983,578 individuals across diverse populations. In total, 23% of the Regeneron Genetics Center Million Exome (RGC-ME) data come...

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PMID: 38768635
DOI: 10.1038/s41586-024-07556-0
PMCID: PMC11254753

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