{"id":"W2010329064","doi":"10.1097/00006982-200510000-00016","title":"EVALUATION OF GENOTYPE–PHENOTYPE ASSOCIATIONS IN LEBER CONGENITAL AMAUROSIS","year":2005,"lang":"en","type":"article","venue":"Retina","topic":"Retinal Development and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":80,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University Health Centre","funders":"","keywords":"RPE65; GUCY2D; Genotype; Cohort; Biology; Ophthalmology; Medicine; Genetic variation; Retinal degeneration; Genetics; Phenotype; Retinal; Gene; Pathology; Retinal pigment epithelium","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":[0.000457904,0.0004885601,0.000303543,0.001359662,0.0003310308,0.0004237001,0.0001786535,0.000382315,0.001711771],"category_scores_gemma":[0.002074569,0.0001532248,0.0002119488,0.0005678285,0.0003215389,0.0002146054,0.0002923113,0.0002363261,0.0002613256],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000203125,"about_ca_system_score_gemma":0.0001428419,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006598954,"about_ca_topic_score_gemma":0.0006754723,"domain_scores_codex":[0.9995075,0.000157397,0.0000658778,0.0001125555,0.00009579507,0.00006084258],"domain_scores_gemma":[0.9988254,0.0004253152,0.0004155654,0.00006189969,0.0001090964,0.0001628145],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002673519,0.00002954983,0.9880833,0.00001731196,0.00003949003,0.001302388,0.00007214184,0.0001093491,0.006612624,0.00002578058,0.00006690705,0.003373816],"study_design_scores_gemma":[0.00001467945,0.0002447157,0.9881639,0.000006618668,0.00003266328,0.009424471,0.0001035837,0.0003372345,0.001371463,0.00004516857,0.0002479852,0.00000760818],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9995391,0.0001426638,0.00007296739,0.00001368988,0.000001629164,0.000003270115,0.00005097682,0.000004491943,0.0001711741],"genre_scores_gemma":[0.9996541,0.00003568971,0.0001516002,0.000008931153,0.00000426782,0.000003068565,0.0000938864,0.000002799257,0.00004559697],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001711771,"threshold_uncertainty_score":0.005726516,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0190089915044169,"score_gpt":0.2799305889428698,"score_spread":0.2609215974384528,"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."}}