{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00009280238,0.0006120828,0.0002983138,0.001358895,0.0002337285,0.0005344322,0.0001446222,0.0006527842,0.003158391],"category_scores_gemma":[0.0002824035,0.0001514125,0.0002224762,0.0004988389,0.0003097225,0.0003533451,0.0004467348,0.0003417592,0.0005814199],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003641182,"about_ca_system_score_gemma":0.0001804895,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000501369,"about_ca_topic_score_gemma":0.0003103864,"domain_scores_codex":[0.9998783,0.0000269961,0.00001801292,0.00002498723,0.00002394285,0.00002780067],"domain_scores_gemma":[0.9998186,0.00006630965,0.00006293112,0.000003986236,0.000009457964,0.00003880984],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.0005589072,0.00008388063,0.09731774,0.002159169,0.0002879233,0.4295275,0.0005871976,0.002125595,0.256521,0.02450568,0.009458326,0.1768671],"study_design_scores_gemma":[0.00006606216,0.0002346417,0.09610108,0.0003867114,0.0001845594,0.8299054,0.0002308436,0.0009698936,0.01673232,0.009906627,0.04519353,0.00008841982],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.7301438,0.2139109,0.009601902,0.003883,0.0004465814,0.00007186209,0.0008017305,0.001281469,0.03985876],"genre_scores_gemma":[0.9691028,0.02438346,0.001952947,0.0003699204,0.0004011792,0.00001792449,0.0002733267,0.00004545355,0.003452955],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003158391,"threshold_uncertainty_score":0.01056588,"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."}}