{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001407386,0.0006529279,0.0006819841,0.000441477,0.0002401354,0.0004461971,0.0007504884,0.0006464897,0.0008151309],"category_scores_gemma":[0.003803451,0.0002283527,0.000638299,0.0002698445,0.0002466779,0.0002896501,0.0004535905,0.0008387284,0.0002358327],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005351821,"about_ca_system_score_gemma":0.0007137546,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.010066,"about_ca_topic_score_gemma":0.008195151,"domain_scores_codex":[0.9997681,0.0001180775,0.00001074435,0.00005218889,0.0000252573,0.00002568111],"domain_scores_gemma":[0.9988402,0.0008565758,0.00007697296,0.00005468224,0.0001422264,0.00002952951],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"simulation_or_modeling","study_design_gemma":"simulation_or_modeling","study_design_scores_codex":[0.0001043071,0.00003346336,0.007525949,0.00001818924,0.00009310924,0.00007684285,0.00003665843,0.9691669,0.0006600926,0.0008638949,0.0005140534,0.02090646],"study_design_scores_gemma":[0.000004516326,0.00001356455,0.0004753813,0.000002567185,0.00000750269,0.00001117455,0.000003316284,0.9986364,0.0001001344,0.0006865304,0.00005697583,0.000001887026],"study_design_candidate":"simulation_or_modeling","study_design_consensus":"simulation_or_modeling","genre_codex":"methods","genre_gemma":"methods","genre_scores_codex":[0.4648074,0.001032711,0.5296842,0.0007287531,0.00005498297,0.00009460226,0.0005872473,0.001416274,0.001593886],"genre_scores_gemma":[0.959606,0.0001365197,0.03841972,0.0001360598,0.00002009091,0.0001043877,0.0006060837,0.00004121801,0.0009297803],"genre_candidate":"methods","genre_consensus":"methods","teacher_disagreement_score":0.010066,"threshold_uncertainty_score":0.02001482,"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."}}