{"id":"W2807049387","doi":"10.1038/s41436-018-0022-8","title":"A proposed nosology of inborn errors of metabolism","year":2018,"lang":"en","type":"article","venue":"Genetics in Medicine","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":270,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of British Columbia","funders":"National Institutes of Health","keywords":"Nosology; Schema (genetic algorithms); Inborn error of metabolism; Computer science; Psychology; Medicine; Psychiatry; Data science; Information retrieval; Endocrinology","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":[0.00192222,0.0007730593,0.001021422,0.002435733,0.001371854,0.002933317,0.003125912,0.003143433,0.003887707],"category_scores_gemma":[0.003488165,0.0002785027,0.001072973,0.001148672,0.006919676,0.003275871,0.002000069,0.003355682,0.0008398083],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001118807,"about_ca_system_score_gemma":0.002184119,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007843781,"about_ca_topic_score_gemma":0.0007087648,"domain_scores_codex":[0.9989047,0.0003237111,0.0001977612,0.0002796113,0.0001633948,0.0001308268],"domain_scores_gemma":[0.997014,0.001058664,0.0005003611,0.0004830997,0.0006001299,0.0003436824],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"theoretical_or_conceptual","study_design_gemma":"theoretical_or_conceptual","study_design_scores_codex":[0.0003002616,0.0001984341,0.01402744,0.0003579658,0.00007330449,0.00480869,0.0009494516,0.0006357472,0.004853625,0.9395078,0.005757608,0.02852965],"study_design_scores_gemma":[0.0001477119,0.0005321974,0.008519739,0.0002726119,0.0001642804,0.02798535,0.00111483,0.005327798,0.003778251,0.8716924,0.08037212,0.00009274338],"study_design_candidate":"theoretical_or_conceptual","study_design_consensus":"theoretical_or_conceptual","genre_codex":"methods","genre_gemma":"empirical","genre_scores_codex":[0.2251098,0.1267492,0.3151563,0.1522123,0.02451067,0.0005211927,0.002362187,0.001748218,0.1516302],"genre_scores_gemma":[0.85195,0.03229235,0.08104408,0.008036323,0.01020985,0.0003897114,0.0008167988,0.00009183188,0.0151691],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.003887707,"threshold_uncertainty_score":0.01300567,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01356740523705251,"score_gpt":0.2962398986528321,"score_spread":0.2826724934157796,"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."}}