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Meta-analysis methods for genome-wide association studies and beyond

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NATURE REVIEWS GENETICS
卷 14, 期 6, 页码 379-389

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NATURE PORTFOLIO
DOI: 10.1038/nrg3472

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  1. GEFOS [FP7-HEALTH-F2-2008-201865-GEFOS]
  2. TREATOA [FP7-HEALTH-F2-2008-200800-TREATOA]

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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.

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