Sequence data and association statistics from 12,940 type 2 diabetes cases and controls
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Published version
Author(s)
Type
Journal Article
Abstract
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 ~82 K Europeans via the exome chip, and ~90% of low-frequency non-coding variants in ~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.
Date Issued
2017-12-19
Date Acceptance
2017-11-02
Citation
Scientific Data, 2017, 4
ISSN
2052-4463
Publisher
Nature Publishing Group
Journal / Book Title
Scientific Data
Volume
4
Copyright Statement
This article is licensed under a Creative Commons Attribution 4.0 International
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link to the Creative Commons license, and indicate if changes were made. The images or other third party
material in this article are included in the article’s Creative Commons license, unless indicated otherwise in
a credit line to the material. If material is not included in the article’s Creative Commons license and your
intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain
permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.
org/licenses/by/4.0/
The Creative Commons Public Domain Dedication waiver http://creativecommons.org/publicdomain/
zero/1.0/ applies to the metadata files made available in this article.
© The Author(s) 2017
License, which permits use, sharing, adaptation, distribution and reproduction in any
medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a
link to the Creative Commons license, and indicate if changes were made. The images or other third party
material in this article are included in the article’s Creative Commons license, unless indicated otherwise in
a credit line to the material. If material is not included in the article’s Creative Commons license and your
intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain
permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.
org/licenses/by/4.0/
The Creative Commons Public Domain Dedication waiver http://creativecommons.org/publicdomain/
zero/1.0/ applies to the metadata files made available in this article.
© The Author(s) 2017
License URL
Sponsor
British Heart Foundation
Medical Research Council (MRC)
Wellcome Trust
Medical Research Council (MRC)
National Institute for Health Research
Action on Hearing Loss
Medical Research Council (MRC)
Medical Research Council (MRC)
National Institute for Health Research
Imperial College Healthcare NHS Trust- BRC Funding
Grant Number
SP/04/02
G0700931
084723/Z/08/Z
G0601966
NF-SI-0611-10136
G51_Chambers
MR/L01632X/1
MR/L01341X/1
RTJ6219303-1
RDF03
Publication Status
Published
Article Number
170179