{"id":"W4405558774","doi":"10.1093/hmg/ddae182","title":"Use of patient-derived cell models for characterization of compound heterozygous hypomorphic <i>C2CD3</i> variants in a patient with isolated nephronophthisis","year":2024,"lang":"en","type":"article","venue":"Human Molecular Genetics","topic":"Genetic and Kidney Cyst Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; McGill University Health Centre","funders":"Fonds de Recherche du Québec - Santé; Canadian Institutes of Health Research; Hospital for Sick Children; McGill University Health Centre; McGill University","keywords":"Ciliogenesis; Cilium; Biology; Nephronophthisis; Missense mutation; Ciliopathies; Ciliopathy; Compound heterozygosity; Intraflagellar transport; Exome sequencing; Phenotype; Cystic kidney disease; Cyclopamine; Genetics; Hedgehog signaling pathway; Cell biology; Cancer research; Endocrinology; Internal medicine; Kidney; Mutant; Signal transduction; 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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004055929,0.0005248157,0.0003772862,0.0005048256,0.0003665595,0.0005219586,0.0003673056,0.0008305411,0.001936459],"category_scores_gemma":[0.0003749117,0.0001689536,0.0006004639,0.0003449252,0.0003166792,0.0001863089,0.0004112451,0.0008618544,0.0007937858],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003827153,"about_ca_system_score_gemma":0.000247276,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001526581,"about_ca_topic_score_gemma":0.002417629,"domain_scores_codex":[0.9996618,0.00004461197,0.00004781668,0.0001020233,0.000107027,0.0000367369],"domain_scores_gemma":[0.9997743,0.00006045147,0.0000403124,0.00004498116,0.00002760956,0.00005232332],"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":[0.0001163134,0.00005367832,0.001762113,0.0000380511,0.00002466652,0.001327246,0.00006177276,0.000155083,0.9950352,0.000136693,0.0001235784,0.001165603],"study_design_scores_gemma":[0.00009035444,0.001000376,0.03396044,0.0000380649,0.0002055002,0.02138908,0.0002364379,0.004566832,0.9261694,0.0002288001,0.01207021,0.00004455376],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9778862,0.001283216,0.01409534,0.0002758108,0.00009667781,0.0002243667,0.003111323,0.0002297665,0.002797309],"genre_scores_gemma":[0.9844566,0.0009746603,0.008834985,0.0001608458,0.00001402106,0.0002054209,0.003686805,0.00009032553,0.00157636],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001936459,"threshold_uncertainty_score":0.006478131,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01395975360720107,"score_gpt":0.2137506600600375,"score_spread":0.1997909064528364,"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."}}