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

Research output: Contribution to journalJournal articleResearchpeer-review

  • 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
  • Oskari Kilpeläinen, Tuomas
  • André Scherag
  • Tonu Esko
  • Zoltán Kutalik
  • Iris M Heid
  • Loos, Ruth
  • Genetic Investigation of Anthropometric Traits (GIANT) Consortium
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
JournalNature Protocols (Online)
Volume9
Issue number5
Pages (from-to)1192-1212
Number of pages21
ISSN1750-2799
DOIs
Publication statusPublished - May 2014

ID: 108759875