{"id":"W4401093999","doi":"10.1161/circgen.124.004554","title":"High-Risk Nonclassical Long-QT Syndrome Genotypes: Spectrum of Genetic and Phenotypic Features","year":2024,"lang":"en","type":"letter","venue":"Circulation Genomic and Precision Medicine","topic":"Cardiac electrophysiology and arrhythmias","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"Libin Cardiovascular Institute of Alberta; Queen's University; St. Boniface Hospital; St. Michael's Hospital; Royal Jubilee Hospital; Centre Hospitalier Universitaire Sainte-Justine; McGill University Health Centre; University of Ottawa; Institut universitaire de cardiologie et de pneumologie de Québec; University of Alberta; Population Health Research Institute; Queen Elizabeth II Health Sciences Centre; Montreal Heart Institute; University of British Columbia; Stollery Children's Hospital; BC Children's Hospital; Western University","funders":"","keywords":"Long QT syndrome; Phenotype; Genotype; Genetics; Biology; Medicine; Gene; QT interval; Internal medicine","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":[0.0006935889,0.0006128241,0.0009832939,0.0005800232,0.00115562,0.001092907,0.0007561524,0.01205173,0.002641589],"category_scores_gemma":[0.007411267,0.0002945643,0.0005230974,0.0004981889,0.001130515,0.001243953,0.0003990991,0.007326145,0.00105229],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001054852,"about_ca_system_score_gemma":0.0009628862,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002681326,"about_ca_topic_score_gemma":0.004729188,"domain_scores_codex":[0.999318,0.0001908539,0.0001010725,0.0001098779,0.0001557009,0.000124573],"domain_scores_gemma":[0.9977288,0.001429304,0.0001183251,0.00007445809,0.000239323,0.000409863],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.0005598105,0.0002071974,0.06259008,0.0001332782,0.00009657298,0.5364333,0.0009067656,0.0006641654,0.003258979,0.009764256,0.3519687,0.0334169],"study_design_scores_gemma":[0.0006213203,0.0003827044,0.05378751,0.0006446624,0.0001562752,0.7050208,0.002190777,0.007070788,0.001184849,0.04156429,0.1871778,0.0001982427],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"commentary","genre_gemma":"empirical","genre_scores_codex":[0.05939871,0.003108662,0.001178709,0.9034861,0.008108078,0.00005836732,0.0003835656,0.00009630461,0.02418157],"genre_scores_gemma":[0.5022507,0.004450636,0.002935663,0.3670646,0.1080069,0.0001266785,0.0003578095,0.0001055148,0.01470152],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.01205173,"threshold_uncertainty_score":0.008836985,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008306984386819313,"score_gpt":0.2371004032328509,"score_spread":0.2287934188460316,"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."}}