{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00004904155,0.00007467397,0.00009063577,0.00002638584,0.00002163753,0.00000819459,0.00008395586,0.0000478302,0.00007474208],"category_scores_gemma":[0.00006015274,0.0000832646,0.00003130415,0.00008831365,0.00001788424,0.000004147051,0.00003228723,0.00003527907,0.00002180146],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000002343854,"about_ca_system_score_gemma":0.00003302842,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00009713625,"about_ca_topic_score_gemma":0.00004762192,"domain_scores_codex":[0.9993625,0.00004389843,0.0001771639,0.0002311034,0.00009560573,0.00008976428],"domain_scores_gemma":[0.999669,0.000003242804,0.00005055352,0.0001422754,0.00003647358,0.00009851642],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.001076427,0.0001849059,0.1235027,0.00008177738,0.00006656656,0.000005201437,0.00510531,0.00188962,0.8537443,0.0002452051,0.002755849,0.01134212],"study_design_scores_gemma":[0.0006280688,0.0001467071,0.9842608,0.000006703816,0.00002105804,4.438454e-8,0.00009611736,0.0001188973,0.01254561,0.0006367557,0.001455356,0.00008390351],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9976804,0.0002308035,0.001359731,0.0001456531,0.00009422448,0.0001734903,0.00008462584,0.000007887547,0.0002231351],"genre_scores_gemma":[0.9986795,0.00001228337,0.000326805,0.000223397,0.0001904387,0.00001188581,0.000502911,0.00001008898,0.00004270662],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8607581,"threshold_uncertainty_score":0.3395432,"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."}}