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

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

Rare coding variants that significantly impact function provide insights into the biology of a gene1-3. However, ascertaining their frequency requires large sample sizes4-8. Here, we present a catalogue of human protein-coding variation, derived from exome sequencing of 983,578 individuals across di...

Full description

Bibliographic Details
Main Authors: Sun, KY, Bai, X, Chen, S, Bao, S, Zhang, C, Kapoor, M, Backman, J, Joseph, T, Maxwell, E, Mitra, G, Gorovits, A, Mansfield, A, Boutkov, B, Gokhale, S, Habegger, L, Marcketta, A, Locke, AE, Ganel, L, Hawes, A, Kessler, MD, Sharma, D, Staples, J, Bovijn, J, Gelfman, S, Di Gioia, A, Rajagopal, VM, Lopez, A, Varela, JR, Alegre, J, Berumen, J, Tapia-Conyer, R, Kuri-Morales, P, Torres, J, Emberson, J, Collins, R, Regeneron Genetics Center, RGC-ME Cohort Partners, Cantor, M, Thornton, T, Kang, HM, Overton, JD, Shuldiner, AR, Cremona, ML, Nafde, M, Baras, A, Abecasis, G, Marchini, J, Reid, JG, Salerno, W, Balasubramanian, S
Format: Journal article
Language:English
Published: Springer Nature 2024

Similar Items