{"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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0008353882,0.0007737261,0.004874856,0.0006516057,0.0001578193,0.00003352178,0.000186427,0.0006438065,0.000002577793],"category_scores_gemma":[0.0003943273,0.000668838,0.0009187942,0.0009397959,0.0001502459,0.00006508841,0.0005570411,0.0007653602,0.00006611815],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006742069,"about_ca_system_score_gemma":0.0005404898,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0000359413,"about_ca_topic_score_gemma":0.000008441997,"domain_scores_codex":[0.9961349,0.0005894715,0.0008396182,0.001281774,0.0003572158,0.000797039],"domain_scores_gemma":[0.9980525,0.0001864633,0.0001852502,0.0008407467,0.0002277352,0.0005072528],"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":[0.0008082285,0.00009265336,0.09333442,0.1133301,0.008134917,0.04245945,0.001877653,0.0002668281,0.0003631149,0.0001752842,0.007190926,0.7319664],"study_design_scores_gemma":[0.0005724872,0.00009887062,0.02745119,0.003418284,0.002615798,0.0007667905,0.00009054501,0.000001069627,4.629435e-7,0.00001520785,0.9643454,0.0006239071],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.01781662,0.9739757,0.00005337856,0.0001353004,0.00327499,0.002276564,0.0022104,0.0001212124,0.000135829],"genre_scores_gemma":[0.000861775,0.9894406,0.0002348569,0.0002245747,0.007425802,0.0003916525,0.001139489,0.000139909,0.0001413396],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.9571545,"threshold_uncertainty_score":0.9995763,"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."}}