{"id":"W2138779444","doi":"10.1016/j.cell.2012.06.028","title":"Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling","year":2012,"lang":"en","type":"article","venue":"Cell","topic":"Genetic and Kidney Cyst Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":391,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University Health Centre; Montreal Children's Hospital","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Center for Research Resources; National Institute of Neurological Disorders and Stroke; National Institute of Diabetes and Digestive and Kidney Diseases; National Eye Institute; National Heart, Lung, and Blood Institute; National Institutes of Health; Retina France; Akademie Věd České Republiky; National Human Genome Research Institute; Nederlandse Organisatie voor Wetenschappelijk Onderzoek; Jihočeská Univerzita v Českých Budějovicích; Grantová Agentura České Republiky; University of Michigan; Institut National de la Santé et de la Recherche Médicale; Retina Research Foundation; GlaxoSmithKline; Deutsche Forschungsgemeinschaft; Canadian Institutes of Health Research; University of Washington; Howard Hughes Medical Institute; Nierstichting; March of Dimes Foundation","keywords":"Ciliopathies; Biology; Genetics; Exome sequencing; Mutation; DNA damage; Cilium; Exome; DNA; Gene; Phenotype","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":[0.0003465975,0.0001393604,0.0001124018,0.00005656053,0.0001126418,0.00003985398,0.0001017399,0.0001134409,0.00003232876],"category_scores_gemma":[0.0001665339,0.0001346961,0.00004808687,0.00008153998,0.00004919333,0.000006266084,0.00009973563,0.00006410142,0.00002934975],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000007861571,"about_ca_system_score_gemma":0.00005628391,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000003599842,"about_ca_topic_score_gemma":0.000001018757,"domain_scores_codex":[0.9990909,0.0001291271,0.0001561918,0.0002362862,0.0001034287,0.0002840525],"domain_scores_gemma":[0.9993342,0.00003119519,0.0000484737,0.0002342067,0.00005221297,0.0002996977],"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":[0.0001483836,0.00003346202,0.001182081,0.0000343234,0.000008968153,0.000004702691,0.0005660424,0.00003468815,0.9958267,0.000002471159,0.002095183,0.00006300692],"study_design_scores_gemma":[0.0003797138,0.0001490349,0.02275789,0.00004599697,0.00004066436,0.00001414964,0.0009967409,0.000006562063,0.9520735,0.0000667504,0.02318684,0.0002821659],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9949996,0.003334896,0.0005951179,0.0001437006,0.000118321,0.0001499043,0.00003991068,0.00001403972,0.0006044522],"genre_scores_gemma":[0.9955535,0.00003289769,0.001596074,0.0006034736,0.0002264671,0.00001855236,0.00009487016,0.00002122921,0.00185296],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0437532,"threshold_uncertainty_score":0.5492749,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.00875625648221298,"score_gpt":0.2333719532303533,"score_spread":0.2246156967481404,"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."}}