{"id":"W2533344724","doi":"10.15252/emmm.201505719","title":"TECRL, a new life‐threatening inherited arrhythmia gene associated with overlapping clinical features of both LQTS and CPVT","year":2016,"lang":"en","type":"article","venue":"EMBO Molecular Medicine","topic":"Cardiac electrophysiology and arrhythmias","field":"Medicine","cited_by":133,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal; Montreal Heart Institute","funders":"Swiss Institute of Bioinformatics; Institut de Cardiologie de Montréal; Nederlandse Federatie van Universitair Medische Centra; Universitätsspital Zürich; Universität Zürich; Centre Hospitalier Universitaire Vaudois; Hospital for Sick Children; Université de Montréal; Leids Universitair Medisch Centrum; Schweizerische Herzstiftung; University of Toronto; Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung; Koninklijke Nederlandse Akademie van Wetenschappen; European Research Council; McMaster University; National Institute of Advanced Industrial Science and Technology; Helsingin ja Uudenmaan Sairaanhoitopiiri; Fondation Leenaards; Helsingin Yliopisto; Hartstichting; Universidad de Chile; Universitätsspital Basel; American University of Beirut; ZonMw; Albert-Ludwigs-Universität Freiburg; Kaiser Permanente; National Science Foundation","keywords":"Catecholaminergic polymorphic ventricular tachycardia; Ryanodine receptor 2; SERCA; Sudden death; Internal medicine; Medicine; Sudden cardiac death; Long QT syndrome; Afterdepolarization; Tachycardia; Exome sequencing; Repolarization; Proband; Endocrinology; Ryanodine receptor; Mutation; Calcium; Chemistry; Biology; Gene; QT interval; Genetics; Electrophysiology; Biochemistry","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004595317,0.0002947141,0.001093176,0.0001550149,0.00006386526,0.000004462501,0.00006818607,0.0002734457,0.00008047676],"category_scores_gemma":[0.001773692,0.0001706324,0.0001466559,0.0003493101,0.0005291287,0.00005257502,0.00005617714,0.0003823867,0.000003625381],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004083677,"about_ca_system_score_gemma":0.0002708847,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00006036534,"about_ca_topic_score_gemma":0.000007218888,"domain_scores_codex":[0.9979857,0.0001891693,0.000539651,0.0004949501,0.0003841616,0.0004063967],"domain_scores_gemma":[0.9983994,0.000334702,0.0002800506,0.0004059638,0.0001477868,0.0004320966],"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":[0.001851649,0.00006868238,0.0193751,0.00006275963,0.001488599,0.002573411,0.0002556125,0.000005571047,0.9448543,0.0002641007,0.002792316,0.02640794],"study_design_scores_gemma":[0.01966751,0.005274732,0.9423141,0.003796828,0.001301537,0.00180255,0.00006874611,0.00003257523,0.02357254,0.0004950491,0.001153402,0.0005204365],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9844476,0.0057551,0.002074492,0.006378212,0.0001314965,0.0003732264,0.000005894887,0.00008774282,0.000746212],"genre_scores_gemma":[0.9950945,0.0005012891,0.0007397007,0.002001889,0.0008518519,0.000009266679,0.00003411447,0.00005076288,0.0007166033],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.922939,"threshold_uncertainty_score":0.6958185,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01621729185926267,"score_gpt":0.2838177242476458,"score_spread":0.2676004323883832,"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."}}