Article
Yield of genetic association signals from genomes, exomes and imputation in the UK Biobank.
Nature genetics - 1 Nov 2024
Gaynor Sheila M, Joseph Tyler, Bai Xiaodong, Zou Yuxin, Boutkov Boris, Maxwell Evan K, Delaneau Olivier, Hofmeister Robin J, Krasheninina Olga, Balasubramanian Suganthi, Marcketta Anthony, Backman Joshua, Reid Jeffrey G, Overton John D, Lotta Luca A, Marchini Jonathan, Salerno William J, Baras Aris, Abecasis Goncalo R, Thornton Timothy A
Abstract excerpt
Whole-genome sequencing (WGS), whole-exome sequencing (WES) and array genotyping with imputation (IMP) are common strategies for assessing genetic variation and its association with medically relevant phenotypes. To date, there has been no systematic empirical assessment of the yield of these approaches when applied to hundreds of thousands of samples to enable the discovery of complex trait genetic signals....
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