{"id":"W2594820796","doi":"10.1016/j.ajhg.2017.02.008","title":"Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies","year":2017,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"RNA Research and Splicing","field":"Biochemistry, Genetics and Molecular Biology","cited_by":80,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of British Columbia","funders":"National Center for Research Resources; University of California, Davis; National Eye Institute; Moorfields Eye Charity; Ministry of Science and Technology of the People's Republic of China; Research to Prevent Blindness; National Natural Science Foundation of China; Natural Science Foundation of Beijing Municipality; Agence Nationale de la Recherche; Retina UK; National Institutes of Health; Fight for Sight; National Institute for Health and Care Research","keywords":"Biology; Retinitis pigmentosa; Genetics; Retinal degeneration; Phenotype; Spliceosome; Exome sequencing; Bardet–Biedl syndrome; Hypotonia; Exome; RNA splicing; Gene; RNA","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":[0.0001610246,0.001663585,0.0004172134,0.001561626,0.0005816812,0.000438861,0.0007633927,0.00116479,0.003764241],"category_scores_gemma":[0.0008244723,0.0003857682,0.0005513442,0.0007231706,0.001766024,0.0002429865,0.0008432026,0.0007544039,0.001248098],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006218789,"about_ca_system_score_gemma":0.0008077368,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002677243,"about_ca_topic_score_gemma":0.003234342,"domain_scores_codex":[0.999686,0.000027866,0.000045197,0.00007746914,0.000114646,0.00004882997],"domain_scores_gemma":[0.999202,0.0002064023,0.0002338752,0.00009399791,0.00005125821,0.000212569],"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":[0.0009341792,0.0001729748,0.008843843,0.0001328246,0.0001854556,0.05196066,0.0001792478,0.0008594314,0.9248157,0.001817714,0.002122188,0.007975766],"study_design_scores_gemma":[0.0005096658,0.0004395419,0.07248912,0.00007245452,0.0005314766,0.1463683,0.0005826525,0.006705612,0.7561519,0.002836899,0.01317113,0.000141265],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9918352,0.0007636994,0.002371177,0.0002982282,0.0001627788,0.00003166778,0.0009468698,0.0002978908,0.003292432],"genre_scores_gemma":[0.9957872,0.0003992774,0.001155963,0.00005655316,0.0000282654,0.0000197935,0.0005249834,0.000118257,0.001909787],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003764241,"threshold_uncertainty_score":0.01259267,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03208763872036954,"score_gpt":0.3184943307419732,"score_spread":0.2864066920216037,"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."}}