{"doi":"10.1214/09-sts290","title":"Replication in Genome-Wide Association Studies","abstract":"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.","journal":"Statistical Science","year":2009,"id":6343,"datarank":0.8530463034509732,"base_score":5.68697535633982,"endowment":5.68697535633982,"self_citation_contribution":0.8530463034509732,"citation_network_contribution":0.0,"self_endowment_contribution":0.8530463034509732,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":294,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.0477,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2009-11-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":4424,"name":"Eleftheria Zeggini","orcid":"0000-0003-4238-659X","position":1,"is_corresponding":false},{"id":148,"name":"John P. A. Ioannidis","orcid":"0000-0003-3118-6859","position":2,"is_corresponding":false},{"id":21963,"name":"J. Wouter Jukema","orcid":"0000-0002-3246-8359","position":0,"is_corresponding":true}],"reference_count":76,"raw_metadata":{"citation_network_status":"fetched"},"created_at":"2026-03-01T18:20:47.508186Z","pmid":null,"pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}