The UK10K project identifies rare variants in health and disease.

UK10K Consortium; Klaudia Walter; Josine L Min; Jie Huang; Lucy Crooks; Yasin Memari; Shane McCarthy; John RB Perry; ChangJiang Xu; Marta Futema; +19 more... Daniel Lawson; Valentina Iotchkova; Stephan Schiffels; Audrey E Hendricks; Petr Danecek; Rui Li; James Floyd; Louise V Wain; Inês Barroso; Steve E Humphries; Matthew E Hurles; Eleftheria Zeggini; Jeffrey C Barrett; Vincent Plagnol; J Brent Richards; Celia MT Greenwood; Nicholas J Timpson; Richard Durbin; Nicole Soranzo; (2015) The UK10K project identifies rare variants in health and disease. Nature, 526 (7571). pp. 82-90. ISSN 0028-0836 DOI: 10.1038/nature14962
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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 panel and identify novel alleles associated with levels of triglycerides (APOB), adiponectin (ADIPOQ) and low-density lipoprotein cholesterol (LDLR and RGAG1) from single-marker and rare variant aggregation tests. We describe population structure and functional annotation of rare and low-frequency variants, use the data to estimate the benefits of sequencing for association studies, and summarize lessons from disease-specific collections. Finally, we make available an extensive resource, including individual-level genetic and phenotypic data and web-based tools to facilitate the exploration of association results.


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