Winkler Thomas W, Day Felix R, Croteau-Chonka Damien C, Wood Andrew R, Locke Adam E, Mägi Reedik, Ferreira Teresa, Fall Tove, Graff Mariaelisa, Justice Anne E, Luan Jian'an, Gustafsson Stefan, Randall Joshua C, Vedantam Sailaja, Workalemahu Tsegaselassie, Kilpeläinen Tuomas O, Scherag André, Esko Tonu, Kutalik Zoltán, Heid Iris M, Loos Ruth J F
Department of Genetic Epidemiology, Institute of Epidemiology and Preventive Medicine, University of Regensburg, Regensburg, Germany.
Medical Research Council (MRC) Epidemiology Unit, Institute of Metabolic Science, Addenbrooke's Hospital, Cambridge, UK.
Nat Protoc. 2014 May;9(5):1192-212. doi: 10.1038/nprot.2014.071. Epub 2014 Apr 24.
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.
严格的组织和质量控制(QC)对于促进跨多个全基因组关联研究汇总的统计数据进行成功的全基因组关联荟萃分析(GWAMA)是必要的。本方案提供了关于(i)GWAMA组织方面以及(ii)研究文件层面、跨研究的荟萃层面和荟萃分析输出层面质量控制的指南。实际案例突出了GIANT联盟所经历的问题以及所开发的解决方案,该联盟进行了荟萃分析,包括来自125项研究、超过330,000人的数据。我们提供了进行GWAMA和实施质量控制的通用方案,以尽量减少错误并确保数据的最大利用。我们还包括了使用一个名为EasyQC的强大且灵活的软件包的详细信息。准确的时间安排将极大地受到联盟规模的影响。对于与GIANT联盟规模相当的联盟,本方案至少需要约10个月才能完成。