{"id":"W2114295161","doi":"10.1093/aje/kwp119","title":"Genome-Wide Association Studies, Field Synopses, and the Development of the Knowledge Base on Genetic Variation and Human Diseases","year":2009,"lang":"en","type":"article","venue":"American Journal of Epidemiology","topic":"Genetic Associations and Epidemiology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":146,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University","funders":"Division of Cancer Epidemiology and Genetics, National Cancer Institute; U.S. Department of Health and Human Services; Office of Genomics and Precision Public Health; Erasmus Universitair Medisch Centrum Rotterdam; National Center for Chronic Disease Prevention and Health Promotion; British Heart Foundation; U.S. National Library of Medicine; Medical Research Council; University of Ioannina; University of North Carolina at Chapel Hill; European Commission; National Institutes of Health; University of Leicester; Genome Canada; McGill University; University of Ottawa; Imperial College London; University of Washington; National Cancer Institute; National Center for Research Resources; Centers for Disease Control and Prevention; University of Pennsylvania; Massachusetts General Hospital; Tufts Medical Center","keywords":"Genome-wide association study; Genetic association; Human genome; Genetic epidemiology; Multidisciplinary approach; Data science; Genetics; Biology; Bioinformatics; Genome; Computer science; Single-nucleotide polymorphism; Gene; Genotype","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":["metaresearch"],"consensus_categories":[],"category_scores_codex":[0.002607699,0.0001185829,0.0005102857,0.00004109014,0.0001698725,0.000003015886,0.0001526476,0.00007990914,0.000002604368],"category_scores_gemma":[0.01335266,0.00006759312,0.0000957477,0.00007672059,0.0002482542,0.000002572084,0.0000671259,0.0001375755,3.788028e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00005545488,"about_ca_system_score_gemma":0.0001029573,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001586471,"about_ca_topic_score_gemma":0.00003171146,"domain_scores_codex":[0.9973859,0.001432914,0.0007400476,0.0001672544,0.00006613473,0.0002077489],"domain_scores_gemma":[0.9948207,0.003425901,0.001326531,0.0001785109,0.0001826895,0.00006570417],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002195303,0.0001138584,0.9714419,0.00001178877,0.0004913746,5.7726e-7,0.0009867953,0.0003920189,0.004517703,0.0005401232,0.002257077,0.01902721],"study_design_scores_gemma":[0.000576272,0.0008233081,0.9935895,0.00001676153,0.00009381424,0.000007954766,0.0002052688,0.00001901396,0.0001465311,0.00235264,0.002095462,0.00007343985],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9844587,0.005675824,0.002063301,0.007538704,0.00009777355,0.0001058075,0.000003246226,0.000001479004,0.00005510831],"genre_scores_gemma":[0.9916537,0.001121413,0.003549359,0.003459663,0.0001458489,0.000004747436,0.000003864494,0.000005235765,0.00005614447],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.02214759,"threshold_uncertainty_score":0.9949583,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01896025028107673,"score_gpt":0.3065379919048395,"score_spread":0.2875777416237628,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}