The UK10K project identifies rare variants in health and disease

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dc.contributor.author UK10K Consortium
dc.contributor.author UCLEB Consortium
dc.date.accessioned 2015-12-11T12:29:04Z
dc.date.available 2015-12-11T12:29:04Z
dc.date.issued 2015-10-01
dc.identifier.citation 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
dc.identifier.other PURE: 57116986
dc.identifier.other PURE UUID: 701df217-9e2f-4c18-8e90-0e15ff2d0663
dc.identifier.other WOS: 000362095100038
dc.identifier.other Scopus: 84943182742
dc.identifier.other ORCID: /0000-0002-2527-5874/work/97266583
dc.identifier.uri http://hdl.handle.net/10138/158946
dc.description M. Kivimäki työryhmäjäsen.
dc.description.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. en
dc.format.extent 21
dc.language.iso eng
dc.relation.ispartof Nature
dc.rights cc_by_sa
dc.rights.uri info:eu-repo/semantics/openAccess
dc.subject GENOME-WIDE ASSOCIATION
dc.subject OF-FUNCTION MUTATIONS
dc.subject LOW-FREQUENCY
dc.subject INCIDENTAL FINDINGS
dc.subject SEQUENCE VARIATION
dc.subject COMPLEX TRAITS
dc.subject POPULATION
dc.subject COMMON
dc.subject HERITABILITY
dc.subject APOC3
dc.subject 3141 Health care science
dc.title The UK10K project identifies rare variants in health and disease en
dc.type Article
dc.contributor.organization Clinicum
dc.contributor.organization Department of Psychiatry
dc.contributor.organization Institute for Molecular Medicine Finland
dc.contributor.organization Aarno Palotie / Principal Investigator
dc.contributor.organization Genomics of Neurological and Neuropsychiatric Disorders
dc.description.reviewstatus Peer reviewed
dc.relation.doi https://doi.org/10.1038/nature14962
dc.relation.issn 0028-0836
dc.rights.accesslevel openAccess
dc.type.version publishedVersion

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