{"id":"W2057513311","doi":"10.1186/1753-6561-5-s9-s85","title":"A pathway-based association analysis model using common and rare variants","year":2011,"lang":"en","type":"article","venue":"BMC Proceedings","topic":"Genetic Associations and Epidemiology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; Hospital for Sick Children; Princess Margaret Cancer Centre","funders":"National Institutes of Health","keywords":"Genetic association; Genome-wide association study; Genetic variants; Computational biology; Disease; Rare disease; Linkage (software); Genetics; Medicine; Bioinformatics; Biology; Genotype; Single-nucleotide polymorphism; Gene; Internal medicine","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":[0.0004167873,0.0001104596,0.0001973166,0.00007664337,0.00009900667,0.00001691979,0.00008409,0.0002144587,0.000007267306],"category_scores_gemma":[0.0002186674,0.0001100096,0.00008995509,0.0001785225,0.00002034501,0.000004881619,0.0000541713,0.00005525419,0.000001478523],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000373464,"about_ca_system_score_gemma":0.00007318569,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00005821276,"about_ca_topic_score_gemma":0.00005721371,"domain_scores_codex":[0.9992085,0.00002119295,0.0001987018,0.0002746877,0.00008119637,0.0002157337],"domain_scores_gemma":[0.999481,0.00001140192,0.0002132771,0.00008772471,0.0001443608,0.00006226345],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0000253054,0.00003679268,0.9728727,0.00001127738,0.0001279462,1.410215e-7,0.0001285176,0.0007262602,0.02559875,0.0001170857,0.0002137644,0.0001414067],"study_design_scores_gemma":[0.0006400557,0.0001268923,0.590012,0.000008448098,0.0004864017,0.000002712173,0.0001666693,0.3990157,0.007699417,0.00128028,0.0002462172,0.0003152526],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9805619,0.00008755981,0.01771739,0.00003132668,0.00002215656,0.0000944302,0.00002384634,0.00001316036,0.001448307],"genre_scores_gemma":[0.9673265,0.00001279442,0.03217069,0.0002125513,0.00004334351,0.0000128615,0.00004519204,0.00001148745,0.0001646429],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3982894,"threshold_uncertainty_score":0.4486063,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04354296157432311,"score_gpt":0.2617053544085317,"score_spread":0.2181623928342086,"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."}}