{"id":"W3214298618","doi":"","title":"The yield of clinical genetic testing in inherited retinal disease: experience at the Hospital for Sick Children, Toronto, Canada","year":2019,"lang":"en","type":"article","venue":"Investigative Ophthalmology & Visual Science","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"Hospital for Sick Children","funders":"","keywords":"Sick child; Genetic testing; Medicine; Optometry; Disease; Retinal; Pediatrics; Ophthalmology; Family medicine; Internal medicine","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":true,"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":[0.001471691,0.0004436412,0.0002602093,0.0006149148,0.001529128,0.00104944,0.0008212575,0.0004985119,0.002105115],"category_scores_gemma":[0.006529254,0.00022481,0.0002186053,0.001269938,0.0008952522,0.0002760302,0.0005437619,0.0006606184,0.000242531],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.02303949,"about_ca_system_score_gemma":0.02794419,"about_ca_topic_candidate":true,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.9125199,"about_ca_topic_score_gemma":0.9533072,"domain_scores_codex":[0.9979898,0.0004157905,0.00009650327,0.0001536938,0.000984708,0.0003595582],"domain_scores_gemma":[0.9912031,0.001842698,0.0004679457,0.0001385217,0.003999631,0.002348173],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001191982,0.0002541661,0.8155501,0.0002633828,0.0001093836,0.01014218,0.009573881,0.002144188,0.004226628,0.001013734,0.01637077,0.1391595],"study_design_scores_gemma":[0.00004836771,0.0006405726,0.9778621,0.0001469269,0.00007480572,0.003274358,0.004296381,0.001180511,0.00154334,0.0001634566,0.010719,0.00005014389],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9715335,0.006392155,0.0005864264,0.003956642,0.00007805759,0.0000555842,0.0006862459,0.00004827682,0.01666306],"genre_scores_gemma":[0.9932181,0.003328893,0.0006771656,0.0003020148,0.00002699487,0.000008467275,0.000179423,0.00002353513,0.002235283],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.9125199,"threshold_uncertainty_score":0.1759906,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02926490735665119,"score_gpt":0.3320927537595603,"score_spread":0.3028278464029091,"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."}}