{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001661167,0.0004528931,0.0003429585,0.0009169849,0.0004363891,0.0005966972,0.0004142144,0.001638894,0.004237314],"category_scores_gemma":[0.0004157196,0.0001895198,0.0004818919,0.0003712161,0.0003094583,0.0003526969,0.0006660104,0.0006700241,0.0008473433],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003522747,"about_ca_system_score_gemma":0.0001580664,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001398007,"about_ca_topic_score_gemma":0.002210509,"domain_scores_codex":[0.9997182,0.00001298307,0.00002474145,0.00007555283,0.00009499993,0.00007342412],"domain_scores_gemma":[0.99979,0.00005742684,0.00003850186,0.00002605035,0.00003107373,0.00005694501],"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":[0.0006995164,0.00006168323,0.0178666,0.00006498622,0.0001102972,0.03435602,0.0001079575,0.0003421104,0.9351326,0.0006429885,0.001461142,0.009154128],"study_design_scores_gemma":[0.00008069561,0.0001789129,0.2091653,0.00004259609,0.0002058023,0.1377434,0.000435796,0.007358587,0.6302348,0.00155892,0.01294531,0.00004989505],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9892809,0.001007991,0.003469191,0.0006845036,0.0000927307,0.00002258901,0.001598451,0.0001550517,0.003688696],"genre_scores_gemma":[0.992726,0.0003326257,0.001890137,0.0004198487,0.00002172134,0.00001365681,0.001168959,0.00004882852,0.00337815],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004237314,"threshold_uncertainty_score":0.01417524,"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."}}