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Region Hovedstaden - en del af Københavns Universitetshospital
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The UK10K project identifies rare variants in health and disease

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

DOI

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  • Klaudia Walter
  • Josine L Min
  • Jie Huang
  • Lucy Crooks
  • Yasin Memari
  • Shane McCarthy
  • John R B Perry
  • ChangJiang Xu
  • Marta Futema
  • Daniel Lawson
  • Valentina Iotchkova
  • Stephan Schiffels
  • Audrey E Hendricks
  • Petr Danecek
  • Rui Li
  • James Floyd
  • Louise V Wain
  • Inês Barroso
  • Steve E Humphries
  • Matthew E Hurles
  • Eleftheria Zeggini
  • Jeffrey C Barrett
  • Vincent Plagnol
  • J Brent Richards
  • Celia M T Greenwood
  • Nicholas J Timpson
  • Richard Durbin
  • Nicole Soranzo
  • UK10K Consortium (Børge G. Nordestgaard, Marianne Benn, Anne Tybjerg-Hansen, Anette Varbo, members)
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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.

OriginalsprogEngelsk
TidsskriftNature
Vol/bind526
Udgave nummer7571
Sider (fra-til)82-90
Antal sider9
ISSN0028-0836
DOI
StatusUdgivet - 2015

ID: 45968493