{"id":"W130567547","doi":"10.1161/circ.118.suppl_18.s_986-a","title":"Abstract 5693: Detection of a Founder Effect in LQT1 in Five Apparently Unrelated Families in a Regional Inherited Arrhythmia Clinic","year":2008,"lang":"en","type":"article","venue":"Circulation","topic":"Cardiac electrophysiology and arrhythmias","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Western University","funders":"","keywords":"Medicine; Long QT syndrome; Torsades de pointes; Proband; QT interval; Asymptomatic; Sudden death; Population; Founder effect; hERG; Sudden cardiac death; Cardiology; Internal medicine; Genetic testing; Pediatrics; Genetics; Mutation; Genotype","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":[0.0005933167,0.001239992,0.0005802861,0.002054211,0.002868891,0.0007008921,0.000767672,0.001040216,0.005187877],"category_scores_gemma":[0.004214063,0.0006490815,0.0005912064,0.0007555561,0.0009426577,0.0003250947,0.0008564215,0.0006038017,0.0006772298],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0009420315,"about_ca_system_score_gemma":0.000443597,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.008826064,"about_ca_topic_score_gemma":0.006463808,"domain_scores_codex":[0.9985116,0.0002701695,0.0001282337,0.0004935413,0.0003285923,0.0002678054],"domain_scores_gemma":[0.9984992,0.0004578012,0.0003243363,0.00008836935,0.0001549898,0.0004753493],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0005074755,0.0006032807,0.7351963,0.0000808742,0.0001426824,0.2294462,0.007322503,0.0001696413,0.01304116,0.0002754577,0.001315833,0.01189863],"study_design_scores_gemma":[0.0001106612,0.001087846,0.7588742,0.00006604553,0.000143516,0.2337655,0.00154298,0.0004168438,0.001555105,0.0001172726,0.002265689,0.00005428116],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9989153,0.0001857775,0.0001764321,0.00008189189,0.00001403964,0.00002062794,0.00008235146,0.00001035986,0.0005132041],"genre_scores_gemma":[0.9990728,0.00008167696,0.0001689232,0.0001142438,0.00003118222,0.00001409662,0.0001391129,0.000009852192,0.0003680992],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.008826064,"threshold_uncertainty_score":0.0175494,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02173663761350571,"score_gpt":0.2758876871161268,"score_spread":0.2541510495026211,"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."}}