{"id":"W2142808441","doi":"10.1038/ng.662","title":"Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy","year":2010,"lang":"en","type":"article","venue":"Nature Genetics","topic":"Genetic and Kidney Cyst Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":318,"is_retracted":false,"has_abstract":false,"ca_institutions":"Montreal Children's Hospital; McGill University Health Centre","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Institutes of Health; Retina France; Canadian Institutes of Health Research; Else Kröner-Fresenius-Stiftung; Institut National de la Santé et de la Recherche Médicale; National Eye Institute; Nederlandse Organisatie voor Wetenschappelijk Onderzoek; Wellcome Trust; National Institute of Diabetes and Digestive and Kidney Diseases; James N. Kirby Foundation; Research to Prevent Blindness; F. M. Kirby Foundation","keywords":"Ciliopathy; Ciliopathies; Biology; Joubert syndrome; Exome sequencing; Disease gene identification; Genetics; Nephronophthisis; Cilium; Exome; 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":[0.0001660122,0.0001673628,0.0001629293,0.00004938694,0.00006135981,0.00001613651,0.0003359542,0.0004061434,0.00004472545],"category_scores_gemma":[0.0002796307,0.0001243207,0.0001220994,0.0001369059,0.0002393028,0.000002201219,0.0001046257,0.0003165344,0.000004129778],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000003355206,"about_ca_system_score_gemma":0.0002169202,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003795161,"about_ca_topic_score_gemma":0.0002541494,"domain_scores_codex":[0.9989278,0.00005302945,0.0002787198,0.0002655139,0.0002840455,0.000190861],"domain_scores_gemma":[0.9987984,0.00001719906,0.0002000094,0.000570378,0.0003167246,0.00009724799],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0001128022,0.0000568568,0.003840955,0.0000531123,0.00008039265,0.000008226868,0.0002906419,0.00006407307,0.992219,0.00006100376,0.002845331,0.0003676487],"study_design_scores_gemma":[0.0004264682,0.0001858423,0.029614,0.00001961094,0.000131868,0.00006145775,0.0002406686,0.00002815174,0.9616295,0.0004586594,0.007044989,0.0001588397],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9928191,0.005584336,0.00008039983,0.0001976311,0.0004134681,0.0002253999,0.0001600661,0.000005853584,0.0005137498],"genre_scores_gemma":[0.9980699,0.0002648772,0.0004384034,0.0002680054,0.0002203432,0.00001331812,0.0001653772,0.0000207504,0.000538998],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.03058951,"threshold_uncertainty_score":0.506965,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.003728676733835537,"score_gpt":0.2456104147094199,"score_spread":0.2418817379755844,"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."}}