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

Rare coding variants that substantially affect function provide insights into the biology of a gene 1 , 2 – 3 . However, ascertaining the frequency of such variants requires large sample sizes 4 , 5 , 6 , 7 – 8 . Here we present a catalogue of human protein-coding variation, derived from exome seque...

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Published in:	Nature (London) 2024-07, Vol.631 (8021), p.583-592
Main Authors:	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
Format:	Article
Language:	English
Subjects:	45/23 631/208/1516 631/208/212 631/208/212/2301 631/208/457/649 Alleles Annotations Datasets Depletion Disease Estimates Exome - genetics Exome Sequencing Frequency variation Gene Frequency Genes Genetic diversity Genetic variance Genetic Variation - genetics Genetics Heterozygote Humanities and Social Sciences Humans Loss of Function Mutation - genetics multidisciplinary Mutation, Missense - genetics Open Reading Frames - genetics Population genetics Precision Medicine Proteins Proteins - genetics Retinal ganglion cells RNA Splice Sites - genetics Science Science (multidisciplinary) Sequences Whole genome sequencing
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