TY - JOUR
T1 - Data Descriptor: Sequence data and association statistics from 12,940 type 2 diabetes cases and controls
AU - Flannick, Jason
AU - Fuchsberger, Christian
AU - Mahajan, Anubha
AU - Teslovich, Tanya M
AU - Agarwala, Vineeta
AU - Gaulton, Kyle
AU - V Varga, Tibor
AU - Franks, Paul
AU - Fadista, Joao
AU - Kravic, Jasmina
AU - Lyssenko, Valeriya
AU - Ladenvall, Claes
AU - Rosengren, Anders
AU - Groop, Leif
AU - Melander, Olle
AU - Orho-Melander, Marju
AU - Nilsson, Peter
N1 - Export Date: 3 January 2018
PY - 2017
Y1 - 2017
N2 - 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. © The Author(s) 2017.
AB - 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. © The Author(s) 2017.
UR - https://www.nature.com/articles/sdata20182
U2 - 10.1038/sdata.2017.179
DO - 10.1038/sdata.2017.179
M3 - Article
C2 - 29257133
SN - 2052-4463
VL - 4
JO - Scientific Data
JF - Scientific Data
M1 - 170179
ER -