Journal article
Data Descriptor: Sequence data and association statistics from 12,940 type 2 diabetes cases and controls
J Flannick, C Fuchsberger, A Mahajan, TM Teslovich, V Agarwala, KJ Gaulton, L Caulkins, R Koesterer, C Ma, L Moutsianas, DJ McCarthy, MA Rivas, JRB Perry, X Sim, TW Blackwell, NR Robertson, NW Rayner, P Cingolani, AE Locke, JF Tajes Show all
Scientific Data | NATURE PORTFOLIO | Published : 2017
Open access
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..
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Awarded by Medical Research Council
Funding Acknowledgements
Ralph A DeFronzo has been a member of advisory boards for Astra Zeneca, Novo Nordisk, Janssen, Lexicon, Boehringer-Ingelheim, received research support from Bristol Myers Squibb, Boehringer-Ingelheim, Takeda and Astra Zeneca, and is a member of speaker's bureaus for NovoNordisk and Astra Zeneca. Jose C Florez has received consulting honoraria from Pfizer and PanGenX. Erik Ingelsson is an advisor and consultant for Precision Wellness, Inc., and advisor for Cellink for work unrelated to the present project. Mark McCarthy has received consulting and advisory board honoraria from Pfizer, Lilly, and NovoNordisk. Gilean McVean and Peter Donnelly are co-founders of Genomics PLC, which provides genome analytics.