Sequence data and association statistics from 12,940 type 2 diabetes cases and controls.

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Title: Sequence data and association statistics from 12,940 type 2 diabetes cases and controls.
Authors: Flannick, J
Froguel, P
Prokopenko, I
Lehne, B
Kooner, JS
Chambers, J
Scott, J
Loh, M
Elliott, P
Zhang, W
Scott, W
Nagai, Y
Item 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.
Issue Date: 19-Dec-2017
Date of Acceptance: 2-Nov-2017
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 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 zero/1.0/ applies to the metadata files made available in this article. © The Author(s) 2017
Sponsor/Funder: 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
Funder's Grant Number: SP/04/02
Publication Status: Published
Article Number: 170179
Appears in Collections:Department of Medicine
Faculty of Medicine
Epidemiology, Public Health and Primary Care

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