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Nature Research, Nature, 7571(526), p. 82-90

DOI: 10.1038/nature14962



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The UK10K project identifies rare variants in health and disease

Journal article published in 2015 by Elisabeth M. van Leeuwen, Pingbo Zhang, Hou-Feng Zheng, Feng Zhang, Em van Leeuwen, Cornelia M. van Duijn, Weihua Zhang, Consortium Uk10k, Klaudia Walter, Josine L. Min, Valentina Iotchkova ORCID, Jie Huang, Lucy Crooks, Yasin Memari, Nicole Soranzo Production group Senduran Bala and other authors.
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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Data provided by SHERPA/RoMEO


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.