{"id":"W2899086523","doi":"10.1002/cphg.79","title":"Strategies for Pathway Analysis Using GWAS and WGS Data","year":2018,"lang":"en","type":"article","venue":"Current Protocols in Human Genetics","topic":"Genetic Associations and Epidemiology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":37,"is_retracted":false,"has_abstract":true,"ca_institutions":"Canadian Sleep & Circadian Network","funders":"National Institute on Minority Health and Health Disparities; National Institute of Environmental Health Sciences; U.S. National Library of Medicine; National Institute of General Medical Sciences; National Heart, Lung, and Blood Institute; National Institutes of Health","keywords":"Genome-wide association study; Epistasis; Genetic association; Single-nucleotide polymorphism; Computational biology; Biology; Locus (genetics); Genetics; Phenotype; Minor allele frequency; Gene; Genotype","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.01758424,0.002509392,0.002332645,0.01061664,0.001693766,0.005190626,0.003586418,0.001404968,0.01896657],"category_scores_gemma":[0.05478595,0.002038689,0.005395969,0.008711475,0.001026156,0.002536977,0.006094844,0.003361724,0.0086922],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0008356236,"about_ca_system_score_gemma":0.004184137,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.006640613,"about_ca_topic_score_gemma":0.007554749,"domain_scores_codex":[0.9934849,0.00277498,0.0007416405,0.00138504,0.001304254,0.0003091718],"domain_scores_gemma":[0.9803194,0.0100418,0.001159429,0.005444803,0.002410239,0.0006243935],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.001509215,0.000520966,0.03968317,0.002674521,0.005500465,0.002793405,0.002091833,0.05387167,0.02308168,0.1205887,0.04674516,0.7009393],"study_design_scores_gemma":[0.0004417135,0.0003202084,0.01847582,0.0004137975,0.001151455,0.001569678,0.001477226,0.3433926,0.01217268,0.4881687,0.1320306,0.0003854949],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"methods","genre_gemma":"methods","genre_scores_codex":[0.004202358,0.0002441051,0.9804446,0.0005166606,0.0001441351,0.0005762826,0.005370522,0.007068853,0.001432556],"genre_scores_gemma":[0.03386914,0.0003820398,0.9501721,0.0002610165,0.0000788598,0.001512129,0.0106608,0.001412201,0.001651644],"genre_candidate":"methods","genre_consensus":"methods","teacher_disagreement_score":0.01896657,"threshold_uncertainty_score":0.09299541,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1818560740325748,"score_gpt":0.4543727775559644,"score_spread":0.2725167035233895,"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."}}