The UK10K project identifies rare variants in health and disease.

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UK10K Consortium 
Walter, Klaudia 
Min, Josine L 
Huang, Jie 
Crooks, Lucy 

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.

Adiponectin, Alleles, Cohort Studies, Disease, Exome, Female, Genetic Predisposition to Disease, Genetic Variation, Genetics, Medical, Genetics, Population, Genome, Human, Genome-Wide Association Study, Genomics, Health, Humans, Lipid Metabolism, Male, Molecular Sequence Annotation, Receptors, LDL, Reference Standards, Sequence Analysis, DNA, Triglycerides, United Kingdom
Journal Title
Conference Name
Journal ISSN
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Springer Science and Business Media LLC
Medical Research Council (MC_UU_12015/2)
Medical Research Council (MC_UU_12015/1)
MRC (MC_PC_13046)
MRC (MC_PC_13048)
Medical Research Council (MC_UU_12012/5/B)
Wellcome Trust (095515/Z/11/Z)
Wellcome Trust (100574/Z/12/Z)
Wellcome Trust (100140/Z/12/Z)
Wellcome Trust (098498/Z/12/Z)
Wellcome Trust (095564/Z/11/Z)
Wellcome Trust (091551/Z/10/A)
Wellcome Trust (091310/Z/10/Z)
Medical Research Council (MC_U106179472)
Wellcome Trust (100585/Z/12/Z)
TCC (None)
Medical Research Council (MC_UU_12012/5)