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Data Descriptor: Sequence data and association statistics from 12,940 type 2 diabetes cases and controls
Massachusetts Gen Hosp, Dept Mol Biol, Boston, MA USA.;Broad Inst, Program Med & Populat Genet, Cambridge, MA USA..
Univ Michigan, Dept Biostat, Ctr Stat Genet, Ann Arbor, MI USA..
Univ Oxford, Nuffield Dept Med, Wellcome Trust Ctr Human Genet, Oxford, England..
Univ Michigan, Dept Biostat, Ctr Stat Genet, Ann Arbor, MI USA..
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2017 (engelsk)Inngår i: Scientific Data, E-ISSN 2052-4463, Vol. 4, artikkel-id 170179Artikkel i tidsskrift (Fagfellevurdert) Published
Abstract [en]

To investigate the genetic basis of type 2 diabetes (T2D) to high resolution, the GoT2D and T2D-GENES consortia catalogued variation from whole-genome sequencing of 2,657 European individuals and exome sequencing of 12,940 individuals of multiple ancestries. Over 27M SNPs, indels, and structural variants were identified, including 99% of low-frequency (minor allele frequency [MAF] 0.1-5%) non-coding variants in the whole-genome sequenced individuals and 99.7% of low-frequency coding variants in the whole-exome sequenced individuals. Each variant was tested for association with T2D in the sequenced individuals, and, to increase power, most were tested in larger numbers of individuals (> 80% of low-frequency coding variants in similar to ~82 K Europeans via the exome chip, and similar to ~90% of low-frequency non-coding variants in similar to ~44 K Europeans via genotype imputation). The variants, genotypes, and association statistics from these analyses provide the largest reference to date of human genetic information relevant to T2D, for use in activities such as T2D-focused genotype imputation, functional characterization of variants or genes, and other novel analyses to detect associations between sequence variation and T2D.

sted, utgiver, år, opplag, sider
2017. Vol. 4, artikkel-id 170179
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Identifikatorer
URN: urn:nbn:se:uu:diva-339776DOI: 10.1038/sdata.2017.179ISI: 000418568400001PubMedID: 29257133OAI: oai:DiVA.org:uu-339776DiVA, id: diva2:1181802
Forskningsfinansiär
AstraZeneca
Merknad

Erratum in: Scientific Data, volume 5, Article number: 180002, 2018

Doi:10.1038/sdata.2018.2

Tilgjengelig fra: 2018-02-09 Laget: 2018-02-09 Sist oppdatert: 2018-05-08bibliografisk kontrollert

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