{"id":"W4403227437","doi":"10.1016/j.cjca.2024.08.045","title":"A PROSPECTIVE STUDY USING WHOLE EXOME SEQUENCING (WES) IN A CANADIAN POPULATION WITH HYPERTROPHIC CARDIOMYOPATHY","year":2024,"lang":"en","type":"article","venue":"Canadian Journal of Cardiology","topic":"Cardiomyopathy and Myosin Studies","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"","funders":"","keywords":"Medicine; Hypertrophic cardiomyopathy; Exome sequencing; Cardiomyopathy; Internal medicine; Genetics; Heart failure; Mutation; Gene","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":true,"about_ca":true,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0008103993,0.001290076,0.0006875886,0.001554822,0.007826961,0.001860495,0.001364452,0.001080731,0.002824309],"category_scores_gemma":[0.002201957,0.0007486923,0.0007943367,0.003866567,0.001353572,0.0006115781,0.001147276,0.001420312,0.0003677599],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.008890372,"about_ca_system_score_gemma":0.01157907,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.9476637,"about_ca_topic_score_gemma":0.9487877,"domain_scores_codex":[0.998746,0.00009736802,0.00005329474,0.000405428,0.0002982887,0.0003995227],"domain_scores_gemma":[0.9987566,0.0001222713,0.0001463045,0.00007525863,0.0005626742,0.0003367962],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002298203,0.0001604603,0.9882884,0.00002745694,0.0001426352,0.002440481,0.002313881,0.00008035792,0.001804243,0.0002592739,0.001102575,0.003150402],"study_design_scores_gemma":[0.00003946742,0.0001271659,0.9932829,0.00003223954,0.0001406146,0.001548069,0.002848722,0.0002217046,0.0001017595,0.0001049039,0.00152202,0.0000305278],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9964858,0.0002134148,0.0001696677,0.0002800612,0.00001515823,0.00005432824,0.0009458351,0.000008024756,0.001827648],"genre_scores_gemma":[0.9970829,0.0002701848,0.0004206703,0.0003937088,0.00001609653,0.00003141912,0.0006289239,0.00001357324,0.001142595],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.05233634,"threshold_uncertainty_score":0.105289,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02647246750002904,"score_gpt":0.269417556147192,"score_spread":0.242945088647163,"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."}}