The UK10K project identifies rare variants in health and disease

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http://hdl.handle.net/10138/158946

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UK10K Consortium & UCLEB Consortium 2015 , ' The UK10K project identifies rare variants in health and disease ' , Nature , vol. 526 , no. 7571 , pp. 82-+ . https://doi.org/10.1038/nature14962

Title: The UK10K project identifies rare variants in health and disease
Author: UK10K Consortium; UCLEB Consortium
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Date: 2015-10-01
Language: eng
Number of pages: 21
Belongs to series: Nature
ISSN: 0028-0836
DOI: https://doi.org/10.1038/nature14962
URI: http://hdl.handle.net/10138/158946
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, 7x) or exomes (high read depth, 80x) 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.
Subject: GENOME-WIDE ASSOCIATION
OF-FUNCTION MUTATIONS
LOW-FREQUENCY
INCIDENTAL FINDINGS
SEQUENCE VARIATION
COMPLEX TRAITS
POPULATION
COMMON
HERITABILITY
APOC3
3141 Health care science
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