Systematic single-variant and gene-based association testing of thousands of phenotypes in 426,370 UK Biobank exomes
Konrad J. Karczewski, Matthew Solomonson, Katherine R. Chao, Julia K. Goodrich, Grace Tiao, Wenhan Lu, Bridget M. Riley-Gillis, Ellen A. Tsai, Hye In Kim, Xiuwen Zheng, Fedik Rahimov, Sahar Esmaeeli, A. Jason Grundstad, Mark Reppell, Jeff Waring, , Benjamin M. Neale
The paper performs single-variant and gene-based association analyses of 4,529 phenotypes using exome data from 426,370 UK Biobank individuals, finding associations linked to variant frequency and deleteriousness.
Cell Genomics · Aug 15, 2022Peer-reviewedGenetic & Genomic Medicine