The UK10K project identifies rare variants in health and disease
Name
The UK10K project.pdf
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6.48 MB
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Author(s)
UK10K Consortium
Palotie, Aarno
Date Issued
September 2015
Journal
Nature
Publisher
Nature Publishing Group
Citation
Walter, Klaudia; Min, Josine L.; Huang, Jie; Crooks, Lucy; Memari, Yasin; McCarthy, Shane; Perry, John R. B. et al. “The UK10K Project Identifies Rare Variants in Health and Disease.” Nature 526, no. 7571 (September 2015): 82–90 © 2015 Macmillan Publishers Limited, part of Springer Nature
Version
Final published version
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.
MIT Department
Broad Institute of MIT and Harvard
Terms of Use
Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported license
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DOI of Published Version
https://doi.org/10.1038/nature14962
