{"id":"W2895914266","doi":"10.1161/circgen.118.002255","title":"Novel Association of a De Novo <i>CALM2</i> Mutation With Long QT Syndrome and Hypertrophic Cardiomyopathy","year":2018,"lang":"en","type":"letter","venue":"Circulation Genomic and Precision Medicine","topic":"Cardiac electrophysiology and arrhythmias","field":"Medicine","cited_by":17,"is_retracted":false,"has_abstract":false,"ca_institutions":"McMaster University; Hospital for Sick Children","funders":"","keywords":"Medicine; Hypertrophic cardiomyopathy; Cardiomyopathy; Long QT syndrome; Cardiology; Internal medicine; Mutation; Genetics; QT interval; Heart failure; 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":[0.0006441273,0.0003002048,0.0009610324,0.000300648,0.0001142753,0.00001062545,0.00005124196,0.0007238719,0.00005482993],"category_scores_gemma":[0.0002423303,0.0002319458,0.00009507097,0.0002022296,0.0002610283,0.00006475688,0.00003383097,0.0007020519,0.000006626006],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002334518,"about_ca_system_score_gemma":0.0001730541,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003504018,"about_ca_topic_score_gemma":0.000002291408,"domain_scores_codex":[0.9981117,0.0001394283,0.0004968246,0.0005086171,0.0004480828,0.0002953044],"domain_scores_gemma":[0.9983711,0.0004281137,0.0004750436,0.0003091286,0.0003097287,0.0001069015],"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":[0.00679516,0.0003305864,0.2373525,0.007694316,0.007718571,0.02439509,0.008780333,0.00131955,0.3582432,0.0001215757,0.2735385,0.07371066],"study_design_scores_gemma":[0.00928911,0.002745702,0.9001352,0.002184764,0.003272137,0.05797613,0.00007688122,0.001131709,0.000177568,0.0006537184,0.02166992,0.0006871119],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.947794,0.002151086,0.006231466,0.04263853,0.0002551823,0.0006317369,0.00002766167,0.00003388487,0.000236412],"genre_scores_gemma":[0.9564417,0.000548123,0.0006357771,0.03827921,0.00290146,0.00002625955,0.0005255419,0.00006080216,0.0005811531],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6627827,"threshold_uncertainty_score":0.9458475,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01010919988140479,"score_gpt":0.2304269485068506,"score_spread":0.2203177486254458,"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."}}