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Title: The UK10K project identifies rare variants in health and disease
Authors: Wain, Louise V.
UK10K Consortium
Walter, K.
Min, J. L.
Huang, J.
Crooks, L.
Memari, Y.
MCCarthy, S.
Perry, J. R.
Xu, C.
First Published: 14-Sep-2015
Publisher: Nature Publishing Group
Citation: Nature, 2015, 526, pp. 82-82 (90)
Abstract: 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.
DOI Link: 10.1038/nature14962
ISSN: 1342-0054
Version: Post-print
Status: Peer-reviewed
Type: Journal Article
Rights: Copyright © 2015, Rights Managed by Nature Publishing Group. This is the Final Accepted Version of a paper published in Nature.
Description: The file associated with this record is under a 6-month embargo from publication in accordance with the publisher's self-archiving policy, available at The full text may be available in the publisher links provided above.
Appears in Collections:Published Articles, Dept. of Health Sciences

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