Rare Genetic Variation Underlying Human Diseases and Traits: Results from 200,000 Individuals in the UK Biobank
Sean Joseph Jurgens, Seung Hoan Choi, Valerie N. Morrill, Mark D. Chaffin, James P. Pirruccello, Jennifer L. Halford, Lu-Chen C Weng, Victor D. Nauffal, Carolina Roselli, Amelia Weber Hall, Matthew T. Oetjens, Braxton Lagerman, David P. vanMaanen, Gonçalo R. Abecasis, Xiaodong Bai, , Patrick T. Ellinor
The paper identifies 51 known and 23 novel gene-disease associations using exome sequencing data from 200,000 UK Biobank participants, highlighting high-impact rare variants for 26 diseases and traits.
Nature Genetics · Feb 17, 2022Peer-reviewedGenetics