{"id":"W2998798931","doi":"10.1002/humu.23983","title":"From genotype to phenotype: Early prediction of disease severity in argininosuccinic aciduria","year":2020,"lang":"en","type":"article","venue":"Human Mutation","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":26,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; Deutsche Forschungsgemeinschaft; European Commission; National Institutes of Health; National Institute of Child Health and Human Development; Baylor College of Medicine; Intellectual and Developmental Disabilities Research Center; Kettering Fund","keywords":"Argininosuccinate lyase; Biology; Urea cycle; Hyperammonemia; Phenotype; Disease; Internal medicine; Liver disease; Medicine; Endocrinology; Arginine; Genetics; Gene; Biochemistry","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0008398684,0.0006134143,0.0004738683,0.0008150471,0.0001604457,0.0006010638,0.0001720913,0.0003625818,0.0006337741],"category_scores_gemma":[0.001873547,0.0001227037,0.0002590629,0.0004695813,0.0001873701,0.0002685087,0.0004121926,0.0003857053,0.00028558],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001468887,"about_ca_system_score_gemma":0.0001815051,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001195786,"about_ca_topic_score_gemma":0.001573469,"domain_scores_codex":[0.999613,0.0001851664,0.00003012882,0.00008691663,0.00005144108,0.00003338418],"domain_scores_gemma":[0.9990461,0.0004388092,0.0002588406,0.00005029295,0.00007426538,0.0001315937],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001548712,0.00008679836,0.9575105,0.00002822713,0.00007456145,0.0002752917,0.0001091739,0.001373422,0.01968723,0.00006236334,0.0001786049,0.01906514],"study_design_scores_gemma":[0.00002679751,0.0006181776,0.9713033,0.00001726386,0.00008013309,0.0009457924,0.0001061005,0.01883073,0.007257294,0.0003143657,0.0004787096,0.00002128434],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9962315,0.0001985025,0.00279216,0.0000466715,0.000006784866,0.00001602953,0.0002662922,0.0000392107,0.0004028014],"genre_scores_gemma":[0.9980918,0.00006463206,0.001387406,0.00001684761,0.000005307367,0.000007531142,0.0002528245,0.000007497918,0.0001661194],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001195786,"threshold_uncertainty_score":0.004441738,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01419376053091707,"score_gpt":0.250404988669572,"score_spread":0.2362112281386549,"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."}}