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Anders Rosengren

Postdoctoral research fellow

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Data Descriptor: Sequence data and association statistics from 12,940 type 2 diabetes cases and controls

Author

  • Jason Flannick
  • Christian Fuchsberger
  • Anubha Mahajan
  • Tanya M Teslovich
  • Vineeta Agarwala
  • Kyle Gaulton
  • Tibor V Varga
  • Paul Franks
  • Joao Fadista
  • Jasmina Kravic
  • Valeriya Lyssenko
  • Claes Ladenvall
  • Anders Rosengren
  • Leif Groop
  • Olle Melander
  • Marju Orho-Melander
  • Peter Nilsson

Summary, in English

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.

Department/s

  • EXODIAB: Excellence of Diabetes Research in Sweden
  • EpiHealth: Epidemiology for Health
  • Genetic and Molecular Epidemiology
  • Genomics, Diabetes and Endocrinology
  • Diabetic Complications
  • Diabetes - Islet Patophysiology
  • Cardiovascular Research - Hypertension
  • Department of Clinical Sciences, Malmö
  • Diabetes - Cardiovascular Disease
  • Internal Medicine - Epidemiology

Publishing year

2017

Language

English

Publication/Series

Scientific Data

Volume

4

Document type

Journal article

Publisher

Nature Publishing Group

Topic

  • Medical Genetics
  • Endocrinology and Diabetes

Status

Published

Research group

  • Genetic and Molecular Epidemiology
  • Genomics, Diabetes and Endocrinology
  • Diabetic Complications
  • Diabetes - Islet Patophysiology
  • Cardiovascular Research - Hypertension
  • Diabetes - Cardiovascular Disease
  • Internal Medicine - Epidemiology

ISBN/ISSN/Other

  • ISSN: 2052-4463