Replication in genome-wide association studies
By Peter Kraft, Eleftheria Zeggini, John P. A. Ioannidis. Statistical Science, 2009
303 citations recorded by the source corpus.
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.
Subfields: Genetics, Statistics and Probability
View Paper: https://www.semanticscholar.org/paper/388b57e58d69b67fcc47b771b2ff7c00ccd28bd4
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In Genetics
In Statistics and Probability
Citations in the corpus
- GATES: a rapid and powerful gene-based association test using extended Simes procedure. (2011, background): “Second, gene-based analysis reduces the multiple-testing burden substantially; it requires correction for approximately 20,000–30,000 genes rather than potentially millions of SNPs. Finally, with the gene as the unit of analysis, extension of the findings to further functional analyses, such as prot”