{"id":"W4220670322","doi":"10.1161/circep.121.010326","title":"GENESIS: Gene-Specific Machine Learning Models for Variants of Uncertain Significance Found in Catecholaminergic Polymorphic Ventricular Tachycardia and Long QT Syndrome-Associated Genes","year":2022,"lang":"en","type":"article","venue":"Circulation Arrhythmia and Electrophysiology","topic":"Cardiac electrophysiology and arrhythmias","field":"Medicine","cited_by":34,"is_retracted":false,"has_abstract":true,"ca_institutions":"Trinity College","funders":"National Center for Advancing Translational Sciences; National Institute of General Medical Sciences; National Heart, Lung, and Blood Institute","keywords":"Catecholaminergic polymorphic ventricular tachycardia; Ryanodine receptor 2; Medicine; Ventricular tachycardia; Long QT syndrome; Short QT syndrome; Genetic testing; Tachycardia; Sudden cardiac death; QT interval; Internal medicine; Cardiology; Receptor; Ryanodine receptor","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":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0003334747,0.0002742673,0.0008169593,0.0003409204,0.0003615543,0.00001060812,0.00006466527,0.0001784573,0.00001892905],"category_scores_gemma":[0.00005859541,0.0002896353,0.0001582621,0.0006527016,0.0001334236,0.00009528063,0.00006864477,0.0004322638,8.442202e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002009714,"about_ca_system_score_gemma":0.0001431703,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001093942,"about_ca_topic_score_gemma":0.000005521086,"domain_scores_codex":[0.9977713,0.0003947711,0.0004779003,0.0006450806,0.0001817712,0.0005291426],"domain_scores_gemma":[0.9991049,0.0001788405,0.0002717563,0.0002314199,0.0001198738,0.00009320379],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.001653758,0.0001463229,0.007453731,0.0001879861,0.000445245,0.003461487,0.0002655571,0.3711,0.6098933,0.001443523,0.00001328649,0.00393574],"study_design_scores_gemma":[0.008507257,0.003432946,0.6600398,0.00008639854,0.0004748286,0.01839338,0.0001577392,0.2960309,0.003355048,0.008253274,0.0002401825,0.001028283],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9787545,0.0181318,0.00199721,0.0001634016,0.0001087071,0.0007616621,0.00002794905,0.00004536182,0.000009403378],"genre_scores_gemma":[0.9976187,0.001231013,0.0001484805,0.00009539686,0.0001286607,0.0002884193,0.0003872217,0.00004520507,0.00005685553],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.652586,"threshold_uncertainty_score":0.9999556,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01862357353714998,"score_gpt":0.2312517834577739,"score_spread":0.212628209920624,"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."}}