Article
Rare variant contribution to human disease in 281,104 UK Biobank exomes.
Nature - 1 Sept 2021
Wang Quanli, Dhindsa Ryan S, Carss Keren, Harper Andrew R, Nag Abhishek, Tachmazidou Ioanna, Vitsios Dimitrios, Deevi Sri V V, Mackay Alex, Muthas Daniel, Hühn Michael, Monkley Susan, Olsson Henric, Wasilewski Sebastian, Smith Katherine R, March Ruth, Platt Adam, Haefliger Carolina, Petrovski Slavé
Abstract excerpt
Genome-wide association studies have uncovered thousands of common variants associated with human disease, but the contribution of rare variants to common disease remains relatively unexplored. The UK Biobank contains detailed phenotypic data linked to medical records for approximately 500,000 participants, offering an unprecedented opportunity to evaluate the effect of rare variation on a broad collection of...
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