Clinical and Molecular Epidemiology Unit, Department of Hygiene and Epidemiology, University of Ioannina Medical School, Ioannina 45110, Greece.
Nat Rev Genet. 2013 Jun;14(6):379-89. doi: 10.1038/nrg3472. Epub 2013 May 9.
Meta-analysis of genome-wide association studies (GWASs) has become a popular method for discovering genetic risk variants. Here, we overview both widely applied and newer statistical methods for GWAS meta-analysis, including issues of interpretation and assessment of sources of heterogeneity. We also discuss extensions of these meta-analysis methods to complex data. Where possible, we provide guidelines for researchers who are planning to use these methods. Furthermore, we address special issues that may arise for meta-analysis of sequencing data and rare variants. Finally, we discuss challenges and solutions surrounding the goals of making meta-analysis data publicly available and building powerful consortia.
GWAS 荟萃分析已成为发现遗传风险变异的一种流行方法。在这里,我们概述了广泛应用和较新的 GWAS 荟萃分析统计方法,包括解释和评估异质性来源的问题。我们还讨论了这些荟萃分析方法对复杂数据的扩展。在可能的情况下,我们为计划使用这些方法的研究人员提供了指导。此外,我们还解决了可能出现在测序数据和罕见变异荟萃分析中的特殊问题。最后,我们讨论了围绕使荟萃分析数据公开和建立强大联盟的目标所面临的挑战和解决方案。