Article
The UK10K project identifies rare variants in health and disease.
Nature - 1 Oct 2015
Walter Klaudia, Min Josine L, Huang Jie, Crooks Lucy, Memari Yasin, McCarthy Shane, Perry John R B, Xu ChangJiang, Futema Marta, Lawson Daniel, Iotchkova Valentina, Schiffels Stephan, Hendricks Audrey E, Danecek Petr, Li Rui, Floyd James, Wain Louise V, Barroso Inês, Humphries Steve E, Hurles Matthew E, Zeggini Eleftheria, Barrett Jeffrey C, Plagnol Vincent, Richards J Brent, Greenwood Celia M T, Timpson Nicholas J, Durbin Richard, Soranzo Nicole
Abstract excerpt
The contribution of rare and low-frequency variants to human traits is largely unexplored. Here we describe insights from sequencing whole genomes (low read depth, 7×) or exomes (high read depth, 80×) of nearly 10,000 individuals from population-based and disease collections. In extensively phenotyped cohorts we characterize over 24 million novel sequence variants, generate a highly accurate imputation reference...
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