{"id":"W4210824218","doi":"10.1016/j.isci.2022.103891","title":"NanoLuc reporters identify COL4A5 nonsense mutations susceptible to drug-induced stop codon readthrough","year":2022,"lang":"en","type":"article","venue":"iScience","topic":"Cell Adhesion Molecules Research","field":"Medicine","cited_by":18,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia","funders":"Japan Society for the Promotion of Science; National Institutes of Health; National Institute of Diabetes and Digestive and Kidney Diseases; Chinook Therapeutics; Alport Syndrome Foundation","keywords":"Alport syndrome; Nonsense mutation; Nonsense; Missense mutation; Genetics; Stop codon; Biology; Gene; Mutation; Molecular biology; Kidney; Glomerulonephritis","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":["insufficient_payload"],"consensus_categories":[],"category_scores_codex":[0.0009687358,0.0001276871,0.0002078368,0.0003445361,0.0006797055,0.00006988867,0.0003437698,0.00002723425,0.001067719],"category_scores_gemma":[0.0005886061,0.0001289453,0.00008534765,0.001866321,0.0001668708,0.0001113143,0.0004461661,0.0003318916,0.0003949153],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003725872,"about_ca_system_score_gemma":0.0006130178,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005801962,"about_ca_topic_score_gemma":0.0001333742,"domain_scores_codex":[0.9969266,0.000134253,0.0003422784,0.0006227043,0.001474866,0.000499264],"domain_scores_gemma":[0.9985315,0.0001260571,0.00009618791,0.000703593,0.0002023789,0.0003402375],"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":[0.0000774024,0.000149787,0.001459457,0.00001675855,0.000006886265,0.0009852001,0.002304715,0.0001296582,0.9681226,0.00006435991,0.02501368,0.001669477],"study_design_scores_gemma":[0.002728999,0.003065522,0.1046313,0.0001531556,0.0001059283,0.002847048,0.02386697,0.002389655,0.7100533,0.0003119685,0.1488707,0.000975396],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9863135,0.00005263879,0.0002365151,0.006194666,0.0003385033,0.0007596833,0.0000129933,0.0001022357,0.005989319],"genre_scores_gemma":[0.9638608,0.000005544522,0.001493613,0.001239664,0.00003552153,0.0001275793,0.0000178053,0.00002224496,0.03319729],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2580693,"threshold_uncertainty_score":0.9998454,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05285310504322531,"score_gpt":0.3758954092011003,"score_spread":0.323042304157875,"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."}}