{"id":"W1990914866","doi":"10.1002/ajmg.a.30466","title":"Ocular phenotypes of three genetic variants of Bardet–Biedl syndrome","year":2004,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Genetic and Kidney Cyst Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":79,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"National Eye Institute","keywords":"Bardet–Biedl syndrome; Retinitis pigmentosa; Genetic heterogeneity; Electroretinography; Medicine; Retinal degeneration; Phenotype; Genetics; Ophthalmology; Biology; Retinal; Gene","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":[0.0002492318,0.0009301436,0.0004851718,0.001070661,0.0007515348,0.0003855794,0.0003361141,0.0005612944,0.00140621],"category_scores_gemma":[0.001780292,0.0002982754,0.0004800512,0.0005217795,0.001061525,0.0001605021,0.001026725,0.0005750344,0.0001896984],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006778755,"about_ca_system_score_gemma":0.0003856798,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004087091,"about_ca_topic_score_gemma":0.003060062,"domain_scores_codex":[0.999397,0.00006873773,0.00006760335,0.0001630364,0.0001715121,0.0001321231],"domain_scores_gemma":[0.9994559,0.0001528195,0.000128422,0.00005041833,0.00006550273,0.0001468791],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002460651,0.0004779224,0.5661088,0.0001547504,0.0002985931,0.2007558,0.003590131,0.0005772117,0.1942409,0.00139741,0.0007461259,0.02919175],"study_design_scores_gemma":[0.0002798583,0.0005906075,0.7823272,0.00004137975,0.0001924059,0.2012293,0.0005481787,0.0006493149,0.01133777,0.0004903437,0.002226666,0.00008696017],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9987914,0.0001324893,0.0002532378,0.00004776119,0.000006690163,0.00001145823,0.00009278345,0.00001063801,0.0006536753],"genre_scores_gemma":[0.998825,0.00007046031,0.0004712071,0.00007213144,0.00001043617,0.00001196395,0.0001718985,0.000008454258,0.0003583449],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004087091,"threshold_uncertainty_score":0.008126616,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007326765409845216,"score_gpt":0.2448585741979579,"score_spread":0.2375318087881126,"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."}}