{"id":"W4387598442","doi":"10.2217/fca-2023-0082","title":"Using Whole Genome Sequence Findings to Assess gene-disease Causality in Cardiomyopathy and Arrhythmia Patients","year":2023,"lang":"en","type":"review","venue":"Future Cardiology","topic":"Cardiomyopathy and Myosin Studies","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Sinai Health System; University of Toronto; SickKids Foundation; University Health Network; Ted Rogers Centre for Heart Research; Hospital for Sick Children","funders":"","keywords":"Medicine; Causality (physics); Cardiomyopathy; Cardiology; Internal medicine; Disease; Whole genome sequencing; Gene; Genome; Heart failure; Genetics","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":[0.002331543,0.000546372,0.00131841,0.004156621,0.0001646313,0.0008654835,0.0007049741,0.0007454487,0.002399068],"category_scores_gemma":[0.005160992,0.0001711833,0.001062997,0.002890528,0.0003200608,0.0007483424,0.0004352456,0.0005606621,0.0006146011],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003703583,"about_ca_system_score_gemma":0.0015187,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001939153,"about_ca_topic_score_gemma":0.002923266,"domain_scores_codex":[0.9993289,0.0002101314,0.0001359223,0.0001336156,0.0001611544,0.00003033395],"domain_scores_gemma":[0.9972787,0.001944346,0.0003294821,0.0000621783,0.0003459337,0.00003935661],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0001767583,0.00003112092,0.009466197,0.08802574,0.001946998,0.0005656345,0.0001437939,0.0002780568,0.001311072,0.001785383,0.00828473,0.8879845],"study_design_scores_gemma":[0.0001691356,0.0006126502,0.08140591,0.1731399,0.01959158,0.01215459,0.0009630814,0.0008353543,0.003741241,0.008159275,0.6990566,0.0001705513],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.0008264731,0.9976785,0.000335169,0.0002729318,0.00008670021,0.00001518782,0.000154423,0.000008948586,0.0006217601],"genre_scores_gemma":[0.009083794,0.9892104,0.0008374319,0.0002434793,0.00008751154,0.00002105234,0.0002807547,0.000003555993,0.0002319275],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.004156621,"threshold_uncertainty_score":0.01233053,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1704534986519333,"score_gpt":0.3939632707527018,"score_spread":0.2235097721007686,"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."}}