{"id":"W2902022272","doi":"10.1161/circgen.118.002166","title":"Predicting Penetrance of <i>SCN5A</i> Rare Variants","year":2018,"lang":"en","type":"letter","venue":"Circulation Genomic and Precision Medicine","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":2,"is_retracted":false,"has_abstract":false,"ca_institutions":"Western University","funders":"","keywords":"Penetrance; Computational biology; Genetics; Medicine; Evolutionary biology; Computer science; Biology; Phenotype; Gene","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":[0.0007892438,0.0004433028,0.0005307103,0.0003943451,0.0005908264,0.001006669,0.0004556155,0.00449161,0.002042559],"category_scores_gemma":[0.008972555,0.0001696398,0.0004255611,0.0002833882,0.0005001442,0.0005422881,0.0002683559,0.003635954,0.00124223],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005166715,"about_ca_system_score_gemma":0.0004078936,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00140002,"about_ca_topic_score_gemma":0.00146557,"domain_scores_codex":[0.9992842,0.0002188252,0.000116476,0.0001096076,0.0001392267,0.0001316338],"domain_scores_gemma":[0.9963319,0.002689499,0.0001831986,0.0001685131,0.0003589602,0.0002681211],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.001736489,0.0002080607,0.2938204,0.0001546739,0.0001362498,0.3151433,0.0006274659,0.002624685,0.01958257,0.008886905,0.202827,0.1542522],"study_design_scores_gemma":[0.0006968261,0.0008367011,0.09244727,0.0007392838,0.0005405782,0.6195009,0.001324947,0.0388047,0.02356699,0.04946126,0.1719175,0.0001630168],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"commentary","genre_gemma":"empirical","genre_scores_codex":[0.3793795,0.005903871,0.01169138,0.537344,0.01350171,0.0001039332,0.001157811,0.0005382028,0.0503796],"genre_scores_gemma":[0.8965498,0.001401458,0.005904936,0.07305219,0.01835073,0.00004352598,0.0003180201,0.00009439947,0.004285115],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.00449161,"threshold_uncertainty_score":0.006833076,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01340851824015054,"score_gpt":0.2426034844444827,"score_spread":0.2291949662043322,"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."}}