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Replication in genome-wide association studies. (English) Zbl 1329.62429
Summary: Replication helps ensure that a genotype-phenotype association observed in a genome-wide association (GWA) study represents a credible association and is not a chance finding or an artifact due to uncontrolled biases. We discuss prerequisites for exact replication, issues of heterogeneity, advantages and disadvantages of different methods of data synthesis across multiple studies, frequentist vs. Bayesian inferences for replication, and challenges that arise from multi-team collaborations. While consistent replication can greatly improve the credibility of a genotype-phenotype association, it may not eliminate spurious associations due to biases shared by many studies. Conversely, lack of replication in well-powered follow-up studies usually invalidates the initially proposed association, although occasionally it may point to differences in linkage disequilibrium or effect modifiers across studies.

62P10 Applications of statistics to biology and medical sciences; meta analysis
92D10 Genetics and epigenetics
62F03 Parametric hypothesis testing
62F15 Bayesian inference
Full Text: DOI Euclid
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