Journal article
Sequence data and association statistics from 12,940 type 2 diabetes cases and controls
- 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.
- Publication status:
- Published
- Peer review status:
- Peer reviewed
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- Publisher copy:
- 10.1038/sdata.2017.179
Authors
- Publisher:
- Springer Nature
- Journal:
- Scientific Data More from this journal
- Volume:
- 4
- Article number:
- 170179
- Publication date:
- 2017-12-19
- Acceptance date:
- 2017-11-02
- DOI:
- ISSN:
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2052-4463
- Pmid:
-
29257133
- Language:
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English
- Pubs id:
-
pubs:812075
- UUID:
-
uuid:a7d63b3d-657f-4565-bfd1-e9eb31f76759
- Local pid:
-
pubs:812075
- Source identifiers:
-
812075
- Deposit date:
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2018-01-15
- ARK identifier:
Terms of use
- Copyright holder:
- Jason et al
- Copyright date:
- 2017
- Notes:
- 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. Note: an erratum exists for this article, originally published and available at: http://dx.doi.org/10.1038/sdata.2018.2
- Licence:
- CC Attribution (CC BY)
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