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Quality Control and Conduct of Genome-Wide Association Meta-Analyses


Winkler, Thomas W.; Day, Felix R.; Croteau-Chonka, Damien C.; Wood, Andrew R.; Locke, Adam E.; Magi, Reedik; Ferreira, Teresa; Fall, Tove; Graff, Mariaelisa; & Justice, Anne E., et al. (2014). Quality Control and Conduct of Genome-Wide Association Meta-Analyses. Nature Protocols, 9(5), 1192-1212. PMCID: PMC4083217


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.


Reference Type

Journal Article

Year Published


Journal Title

Nature Protocols


Winkler, Thomas W.
Day, Felix R.
Croteau-Chonka, Damien C.
Wood, Andrew R.
Locke, Adam E.
Magi, Reedik
Ferreira, Teresa
Fall, Tove
Graff, Mariaelisa
Justice, Anne E.
Luan, Jian'an
Gustafsson, Stefan
Randall, Joshua C.
Vedantam, Sailaja
Workalemahu, Tsegaselassie
Kilpelainen, Tuomas O.
Scherag, Andre
Esko, Tonu
Kutalik, Zoltan
Heid, Iris M.
Loos, Ruth J. F.
The Genetic Investigation of Anthropometric Traits (GIANT) Consortium,