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 R B Perry, ChangJiang Xu, Marta Futema, Daniel John Lawson, Valentina Lotchkova, Stephan Schiffels, Audrey Hendricks, Petr Danecek, Rui Li, James A B Floyd, Louise V Wain, Inês Barroso, Steve E HumphriesMatthew E Hurles, Eleftheria Zeggini, Jeffrey C Barrett, Vincent Plagnol, J Brent Richards, Celia M T Greenwood, Nicholas Timpson, Richard Durbin, Nicole Soranzo, George Davey Smith, John Kemp, Kate Northstone, Lavinia Paternoster, Hashem Shihab, So-Youn Shin, Beate St Pourcain, Tom Gaunt, Susan Ring

Research output: Contribution to journalArticle (Academic Journal)peer-review

694 Citations (Scopus)
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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.

Original languageEnglish
Pages (from-to)82-90
Number of pages21
Issue number7571
Early online date14 Sept 2015
Publication statusPublished - 1 Oct 2015

Bibliographical note

Date of Acceptance: 17/07/2015


  • Adiponectin
  • Alleles
  • Cohort Studies
  • Disease
  • Exome
  • Female
  • Genetic Predisposition to Disease
  • Genetic Variation
  • Genetics, Medical
  • Genetics, Population
  • Genome, Human
  • Genome-Wide Association Study
  • Genomics
  • Great Britain
  • Health
  • Humans
  • Lipid Metabolism
  • Male
  • Molecular Sequence Annotation
  • Receptors, LDL
  • Reference Standards
  • Sequence Analysis, DNA
  • Triglycerides


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