The UK10K project identifies rare variants in health and disease

WALTER, Klaudi, MIN, Josine L., HUANG, Jie and CROOKS, Lucy (2015). The UK10K project identifies rare variants in health and disease. Nature, 526 (7571), 82-90.

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Link to published version:: 10.1038/nature14962


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, 73) or exomes (high read depth, 803) of nearly 10,000 individuals frompopulation-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.

Item Type: Article
Research Institute, Centre or Group: Biomolecular Sciences Research Centre
Identification Number: 10.1038/nature14962
Depositing User: Lucy Crooks
Date Deposited: 05 Sep 2016 13:55
Last Modified: 19 Oct 2016 23:05

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