GeneticsNature GeneticsPeer-reviewed
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…·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.
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