{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0005309295,0.0001601501,0.000245932,0.0001019049,0.0001592062,0.00005593848,0.0003799362,0.000143802,0.00001159008],"category_scores_gemma":[0.00008207927,0.0001603546,0.00005763083,0.0001716978,0.0001843736,0.00000577277,0.0003576912,0.00007177664,8.250958e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001570363,"about_ca_system_score_gemma":0.0001230557,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000009403457,"about_ca_topic_score_gemma":0.0002794647,"domain_scores_codex":[0.9985985,0.000101533,0.0003794089,0.0005402975,0.00007753255,0.000302789],"domain_scores_gemma":[0.9989014,0.00001991597,0.0001645243,0.0007249684,0.0001298947,0.00005930981],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001004166,0.0004208847,0.8473639,0.0002885882,0.0005660861,8.249539e-7,0.0004910165,0.002720888,0.1193087,0.001519298,0.002935424,0.02428398],"study_design_scores_gemma":[0.006490781,0.003819617,0.4021785,0.0002347787,0.0009945747,0.00001135424,0.001306889,0.1377297,0.02568959,0.02259368,0.3964787,0.002471841],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9115381,0.000744048,0.07267778,0.00002004651,0.00009987595,0.0145833,0.0001742647,0.000009591848,0.0001530062],"genre_scores_gemma":[0.9793574,0.00004042812,0.01291505,0.00004226044,0.0005481268,0.006478497,0.000559358,0.00002242327,0.00003641249],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4451854,"threshold_uncertainty_score":0.653907,"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."}}