{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002945368,0.0002609206,0.0003880097,0.0001048378,0.0001004568,0.0000125268,0.0002265349,0.0005533183,0.0001587486],"category_scores_gemma":[0.0001607002,0.0002249278,0.00008927653,0.00007176188,0.0002205857,0.000003701977,0.0001080851,0.0002283286,0.00000703928],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001424608,"about_ca_system_score_gemma":0.0001006275,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002661194,"about_ca_topic_score_gemma":0.000003321403,"domain_scores_codex":[0.9983718,0.00008753219,0.0005248038,0.000561047,0.0002416471,0.0002132012],"domain_scores_gemma":[0.9988019,0.00005772943,0.00037702,0.0004841165,0.0001961842,0.00008299683],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0001666715,0.00002651601,0.02374136,0.0003977957,0.0002004365,0.00005467463,0.0002910082,0.00009511439,0.1314426,0.000008058202,0.8349475,0.008628204],"study_design_scores_gemma":[0.002042677,0.0005524037,0.1413145,0.0006230088,0.0003024777,0.000232378,0.00007208106,0.000617875,0.001129484,0.0007046575,0.8517709,0.0006375478],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9607962,0.01517252,0.001839736,0.01769743,0.001376944,0.0006464005,0.0002993893,0.00001974472,0.002151631],"genre_scores_gemma":[0.9281949,0.00186484,0.0003015789,0.05759637,0.008574462,0.00001524466,0.002413388,0.00007521195,0.0009639403],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1303131,"threshold_uncertainty_score":0.9172291,"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."}}