Article
Rare coding variant analysis for human diseases across biobanks and ancestries.
Nature genetics - 1 Sept 2024
Jurgens Sean J, Wang Xin, Choi Seung Hoan, Weng Lu-Chen, Koyama Satoshi, Pirruccello James P, Nguyen Trang, Smadbeck Patrick, Jang Dongkeun, Chaffin Mark, Walsh Roddy, Roselli Carolina, Elliott Amanda L, Wijdeveld Leonoor F J M, Biddinger Kiran J, Kany Shinwan, Rämö Joel T, Natarajan Pradeep, Aragam Krishna G, Flannick Jason, Burtt Noël P, Bezzina Connie R, Lubitz Steven A, Lunetta Kathryn L, Ellinor Patrick T
Abstract excerpt
Large-scale sequencing has enabled unparalleled opportunities to investigate the role of rare coding variation in human phenotypic variability. Here, we present a pan-ancestry analysis of sequencing data from three large biobanks, including the All of Us research program. Using mixed-effects models, we performed gene-based rare variant testing for 601 diseases across 748,879 individuals, including 155,236 with...
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