The UK10K project identifies rare variants in health and disease

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Pysyväisosoite

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

Lähdeviite

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

Julkaisun nimi: The UK10K project identifies rare variants in health and disease
Tekijä: UK10K Consortium; UCLEB Consortium
Tekijän organisaatio: Clinicum
Department of Psychiatry
Institute for Molecular Medicine Finland
Aarno Palotie / Principal Investigator
Genomics of Neurological and Neuropsychiatric Disorders
Päiväys: 2015-10-01
Kieli: eng
Sivumäärä: 21
Kuuluu julkaisusarjaan: Nature
ISSN: 0028-0836
DOI-tunniste: https://doi.org/10.1038/nature14962
URI: http://hdl.handle.net/10138/158946
Tiivistelmä: 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.
Kuvaus: M. Kivimäki työryhmäjäsen.
Avainsanat: GENOME-WIDE ASSOCIATION
OF-FUNCTION MUTATIONS
LOW-FREQUENCY
INCIDENTAL FINDINGS
SEQUENCE VARIATION
COMPLEX TRAITS
POPULATION
COMMON
HERITABILITY
APOC3
3141 Health care science
Vertaisarvioitu: Kyllä
Tekijänoikeustiedot: cc_by_sa
Pääsyrajoitteet: openAccess
Rinnakkaistallennettu versio: publishedVersion


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