Data Descriptor: Sequence data and association statistics from 12,940 type 2 diabetes cases and controls
Research output: Contribution to journal › Journal article › Research › peer-review
- Data Descriptor Sequence data and association statistics from 12,940 type 2 diabetes cases and controls
Final published version, 1 MB, PDF document
Jason Flannick, Christian Fuchsberger, Anubha Mahajan, Tanya M. Teslovich, Vineeta Agarwala, Kyle J. Gaulton, Lizz Caulkins, Ryan Koesterer, Clement Ma, Loukas Moutsianas, Davis J. McCarthy, Manuel A. Rivas, John R.B. Perry, Xueling Sim, Thomas W. Blackwell, Neil R. Robertson, N. William Rayner, Pablo Cingolani, Adam E. Locke, Juan Fernandez Tajes & 281 others
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.
|Number of pages||20|
|Publication status||Published - 19 Dec 2017|
Erratum: Sequence data and association statistics from 12,940 type 2 diabetes cases and controls.
Number of downloads are based on statistics from Google Scholar and www.ku.dk