{"id":"W2047296951","doi":"10.1111/j.1755-3768.2011.2423.x","title":"Genetics of Leber congenital amaurosis","year":2011,"lang":"en","type":"article","venue":"Acta Ophthalmologica","topic":"Retinal Development and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill Genome Centre","funders":"","keywords":"RPE65; GUCY2D; Biology; Genetics; Retinitis pigmentosa; Gene; Genetic heterogeneity; Joubert syndrome; Candidate gene; Bioinformatics; Genetic enhancement; Phenotype","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":[0.000071059,0.0001206513,0.0001186532,0.0000254485,0.00003377565,0.000004814402,0.000221366,0.0001329122,0.0003994241],"category_scores_gemma":[0.00005108109,0.0001017565,0.00007830615,0.00006278135,0.0001239195,0.000002249214,0.0001247593,0.00004286566,0.00001744655],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000002620465,"about_ca_system_score_gemma":0.00002953986,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001373826,"about_ca_topic_score_gemma":0.000001240974,"domain_scores_codex":[0.999311,0.0000303725,0.0001726237,0.0002210244,0.00008450932,0.0001805286],"domain_scores_gemma":[0.9995804,0.000007064085,0.00007594672,0.0002224834,0.00006251744,0.00005161608],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0002677077,0.000246353,0.3284729,0.00001531723,0.000117963,0.00002981495,0.0001606636,0.000001042215,0.6670714,0.0001323795,0.002242063,0.001242396],"study_design_scores_gemma":[0.0004629305,0.001069519,0.5006977,0.000005129197,0.00003149092,0.0001375636,0.0001711953,0.000003608581,0.4894493,0.0005635049,0.007064261,0.0003438164],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9249251,0.0004043644,0.00002544173,0.00001832364,0.00008016617,0.00009086297,0.000006162588,0.000006683149,0.07444291],"genre_scores_gemma":[0.996515,0.0001611215,0.002313166,0.00006098408,0.00002472332,0.00001077117,0.00003479371,0.00001146929,0.0008679611],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1776221,"threshold_uncertainty_score":0.4373414,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03532801913867874,"score_gpt":0.2524179199066174,"score_spread":0.2170899007679386,"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."}}