{"id":"W3011387458","doi":"10.1101/2020.03.11.987651","title":"Cell-based analysis of <i>CAD</i> variants identifies individuals likely to benefit from uridine therapy","year":2020,"lang":"en","type":"preprint","venue":"bioRxiv (Cold Spring Harbor Laboratory)","topic":"Biochemical and Molecular Research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children; University of Toronto","funders":"Agencia Estatal de Investigación; University of Washington","keywords":"Missense mutation; Biology; CAD; Uridine; Phenotype; Genetics; Complementation; Gene; Biochemistry; RNA","routes":{"ca_aff":true,"ca_fund":false,"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":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0003723784,0.0005691187,0.0008504036,0.0003673606,0.00008163836,0.0001509709,0.001147299,0.0007779539,0.00008674909],"category_scores_gemma":[0.0001970926,0.0005895938,0.0005478573,0.001093848,0.0001205439,0.000005735898,0.001054915,0.0004803675,0.00002699352],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004178379,"about_ca_system_score_gemma":0.0004666195,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0002130516,"about_ca_topic_score_gemma":0.000005879669,"domain_scores_codex":[0.9965759,0.0001428745,0.0006277471,0.001491887,0.0006315234,0.0005300709],"domain_scores_gemma":[0.9969518,0.00003902505,0.0003638126,0.001622803,0.0005398142,0.000482814],"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":[0.0001541149,0.0002354496,0.005142465,0.0001030386,0.001807872,0.00001521364,0.000006973175,0.0003428004,0.9909649,0.0000135898,0.001210795,0.000002717522],"study_design_scores_gemma":[0.0005754034,0.000146923,0.05340153,0.00006938437,0.0005128451,1.52159e-9,0.000001169919,0.0001298451,0.9404334,0.000002824852,0.004149134,0.0005775578],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9882459,0.003190254,0.004291416,0.0005272047,0.0002253016,0.0006228319,0.00282939,0.00005821607,0.000009456696],"genre_scores_gemma":[0.9946562,0.0004656941,0.003153958,0.001114701,0.0002962896,0.0001506166,0.00004388818,0.0001093876,0.000009249302],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.05053159,"threshold_uncertainty_score":0.9996555,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01668797460614304,"score_gpt":0.2457851660942027,"score_spread":0.2290971914880596,"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."}}