{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00006120159,0.00008757856,0.0001006519,0.00005712089,0.000100477,0.000025561,0.00003681237,0.00006072763,0.00005057825],"category_scores_gemma":[0.00006098588,0.00009433652,0.00002551347,0.00006317275,0.00008501559,0.00002185203,0.00004352037,0.00003184079,0.0000022884],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000003276917,"about_ca_system_score_gemma":0.00002370671,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0002003454,"about_ca_topic_score_gemma":0.0001145108,"domain_scores_codex":[0.9993631,0.00001874222,0.0002422376,0.0001650212,0.0001127976,0.00009814194],"domain_scores_gemma":[0.9995507,0.00001581851,0.0001474941,0.00007811125,0.0001621627,0.00004570889],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00003825946,0.0001150393,0.7169229,0.00005179444,0.0001365683,2.45481e-7,0.001333749,0.00003217435,0.2774714,0.000660417,0.001081839,0.002155614],"study_design_scores_gemma":[0.001043704,0.0001208028,0.9879131,0.00001830808,0.00006018464,0.000001195122,0.0003594252,0.0001030148,0.009770007,0.0003873935,0.0001056385,0.0001172526],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9930721,0.0001570713,0.005601868,0.00002401934,0.00003315196,0.0002862855,0.00003086607,0.000005191961,0.0007894372],"genre_scores_gemma":[0.9969438,0.00002738689,0.001710214,0.00003353866,0.00001473423,0.00001546353,0.0008465328,0.0000108463,0.0003974482],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2709902,"threshold_uncertainty_score":0.3846931,"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."}}