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Quality control and conduct of genome-wide association meta-analyses

  • Thomas W. Winkler
  • , Felix R. Day
  • , Damien C. Croteau-Chonka
  • , Andrew R. Wood
  • , Adam E. Locke
  • , Reedik Mägi
  • , Teresa Ferreira
  • , Tove Fall
  • , Mariaelisa Graff
  • , Anne E. Justice
  • , Jian'an Luan
  • , Stefan Gustafsson
  • , Joshua C. Randall
  • , Sailaja Vedantam
  • , Tsegaselassie Workalemahu
  • , Tuomas O. Kilpeläinen
  • , André Scherag
  • , Tonu Esko
  • , Zoltán Kutalik
  • , Iris M. Heid (Lead / Corresponding author)
  • Ruth J. F. Loos (Lead / Corresponding author), Genetic Investigation of ANthropometric Traits (GIANT) Consortium

    Research output: Contribution to journalArticlepeer-review

    Abstract

    Rigorous organization and quality control (QC) are necessary to facilitate successful genome-wide association meta-analyses (GWAMAs) of statistics aggregated across multiple genome-wide association studies. This protocol provides guidelines for (i) organizational aspects of GWAMAs, and for (ii) QC at the study file level, the meta-level across studies and the meta-analysis output level. Real-world examples highlight issues experienced and solutions developed by the GIANT Consortium that has conducted meta-analyses including data from 125 studies comprising more than 330,000 individuals. We provide a general protocol for conducting GWAMAs and carrying out QC to minimize errors and to guarantee maximum use of the data. We also include details for the use of a powerful and flexible software package called EasyQC. Precise timings will be greatly influenced by consortium size. For consortia of comparable size to the GIANT Consortium, this protocol takes a minimum of about 10 months to complete.

    Original languageEnglish
    Pages (from-to)1192-1212
    Number of pages21
    JournalNature Protocols
    Volume9
    Issue number5
    DOIs
    Publication statusPublished - May 2014

    Keywords

    • Genome-Wide Association Study
    • Meta-Analysis as Topic
    • Quality Control
    • Software

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