{"id":"W2904933440","doi":"10.1002/ccr3.1920","title":"A 14‐year‐old in heart failure with multiple cardiomyopathy variants illustrates a role for signal‐to‐noise analysis in gene test re‐interpretation","year":2018,"lang":"en","type":"article","venue":"Clinical Case Reports","topic":"Cardiomyopathy and Myosin Studies","field":"Medicine","cited_by":7,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children","funders":"National Heart, Lung, and Blood Institute; National Institutes of Health; Baylor College of Medicine","keywords":"Medicine; Heart failure; Cardiomyopathy; Disease; Gene; Pathogenicity; Consistency (knowledge bases); Clinical significance; Population; Bioinformatics; Genetics; Cardiology; Internal medicine; Biology","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":[],"consensus_categories":[],"category_scores_codex":[0.002234275,0.0002541698,0.001233873,0.0004060873,0.00008595608,0.00003575862,0.00003754624,0.0002048893,0.00002934286],"category_scores_gemma":[0.003637431,0.0002086011,0.000475898,0.001224441,0.0001772314,0.00009636249,0.00006934298,0.000281793,0.00001083668],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00009337677,"about_ca_system_score_gemma":0.0001684059,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005476748,"about_ca_topic_score_gemma":0.003664358,"domain_scores_codex":[0.9970579,0.0001326031,0.001257255,0.000859054,0.000282435,0.0004108277],"domain_scores_gemma":[0.9973789,0.0009819361,0.000254844,0.0006442827,0.0004620757,0.0002779914],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001254337,0.0004213292,0.960106,0.00004976999,0.0004648425,0.03372344,0.0008410326,0.0002415698,0.0009181022,0.000001797858,0.0009792465,0.0009985795],"study_design_scores_gemma":[0.005332391,0.003494841,0.9540702,0.0004986791,0.002927077,0.01931924,0.002734812,0.004887609,0.0020359,0.0001000418,0.00396878,0.0006304734],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9959168,0.0001575848,0.00157644,0.0005613795,0.0001581201,0.0012723,0.0000401363,0.00005083904,0.0002664243],"genre_scores_gemma":[0.9927274,0.00001267816,0.005924202,0.0004424373,0.0004611097,0.0002337247,0.0000466813,0.00003264313,0.0001191508],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0144042,"threshold_uncertainty_score":0.8506506,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02699443369463693,"score_gpt":0.3321544730869726,"score_spread":0.3051600393923357,"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."}}