{"id":"W2033901496","doi":"10.1002/humu.22398","title":"Screening of a Large Cohort of Leber Congenital Amaurosis and Retinitis Pigmentosa Patients Identifies Novel <i>LCA5</i> Mutations and New Genotype-Phenotype Correlations","year":2013,"lang":"en","type":"article","venue":"Human Mutation","topic":"Retinal Development and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":38,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University Health Centre","funders":"Fonds de Recherche du Québec - Santé; National Eye Institute; University of Cape Town; National Institute for Health and Care Research; Umeå Universitet; Erasmus Medisch Centrum; Radboud Universiteit; Universität Zürich; Universiteit Gent; Fight for Sight; Eberhard Karls Universität Tübingen; Canadian Institutes of Health Research; University of Southern California","keywords":"Retinitis pigmentosa; Sanger sequencing; Biology; Genetics; Proband; Missense mutation; GUCY2D; Phenotype; Exon; Compound heterozygosity; Mutation; Gene","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0003439181,0.0004189894,0.0004660537,0.001182878,0.0007901061,0.0006133231,0.0002816925,0.0004455581,0.002479039],"category_scores_gemma":[0.001525956,0.0002684473,0.0003725333,0.0005909387,0.0002835233,0.0003540303,0.000417705,0.0003023919,0.0005026578],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001854113,"about_ca_system_score_gemma":0.0001761492,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001731512,"about_ca_topic_score_gemma":0.001396821,"domain_scores_codex":[0.9995621,0.00006442428,0.00005001125,0.0001826573,0.00007772905,0.0000631004],"domain_scores_gemma":[0.999405,0.000198926,0.000147755,0.00005979831,0.00005450329,0.0001341235],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002195245,0.00006545269,0.9910038,0.000008698301,0.00004465823,0.001492892,0.000156485,0.00004230879,0.003922986,0.00002434342,0.0001247155,0.002894091],"study_design_scores_gemma":[0.00002400389,0.0002460316,0.9903691,0.000006499556,0.00004793356,0.007808428,0.0002441544,0.0003119613,0.0004904438,0.00003680304,0.0004064821,0.000008178488],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9995276,0.00006170537,0.00009194739,0.00001061014,0.000002009126,0.000007112442,0.00009982356,0.000004796871,0.0001944528],"genre_scores_gemma":[0.9992158,0.0000539893,0.0002062546,0.00002389684,0.00001121491,0.00001017671,0.0003504897,0.000005389133,0.0001227323],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002479039,"threshold_uncertainty_score":0.008293211,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01210892884301399,"score_gpt":0.2405252915577422,"score_spread":0.2284163627147282,"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."}}