articleNatureSep 14, 2015HYBRID OA

The UK10K project identifies rare variants in health and disease

WGWriting groupKWKlaudia WalterJLJosine L. MinJHJie HuangLCLucy Crooks

Wellcome Sanger Institute · University of Bristol · +94 more institutions

PubMed
Indexed incrossrefdatacitepubmed

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…

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Topics & keywords

Topics
Keywords
  • 1000 Genomes Project
  • Imputation (statistics)
  • Exome
  • Exome sequencing
  • Computational biology
  • Biology
  • Population
  • Allele frequency
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