Scientific Publications

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

Publication TypeJournal Article
AuthorsWinkler, TW, Day FR, Croteau-Chonka DC, Wood AR, Locke AE, Mägi R., Ferreira T., Fall T., Graff M., Justice AE, Luan J., Gustafsson S., Randall JC, Vedantam S., Workalemahu T., Kilpeläinen TO, Scherag A., Esko T., Kutalik Z., Heid IM, Loos RJ, and Genetic Investigation of ANthropometric Traits(GIANT) Consortium
AbstractRigorous 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.
Year of Publication2014
JournalNature protocols
Volume9
Issue5
Pages1192-212
Date Published (YYYY/MM/DD)2014/05/01
ISSN Number1754-2189
DOI10.1038/nprot.2014.071
PubMedhttp://www.ncbi.nlm.nih.gov/pubmed/24762786?dopt=Abstract