{"id":"W2072736947","doi":"10.1007/s10545-006-0118-1","title":"A study on the nature of genetic metabolic practice at a major paediatric referral centre","year":2006,"lang":"en","type":"article","venue":"Journal of Inherited Metabolic Disease","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":6,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children; University of Toronto; SickKids Foundation; Alberta Children's Hospital; University of Calgary","funders":"","keywords":"Referral; Medical diagnosis; Medicine; Medical genetics; Sick child; Genetic diagnosis; Pediatrics; Metabolic disease; Genetic testing; Human genetics; Family medicine; Intensive care medicine; Pathology; Genetics; Biology; Internal medicine","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":true,"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":[0.0009386288,0.0001998478,0.0002882064,0.001704715,0.0009716928,0.0009940289,0.0004769072,0.0006052586,0.001733472],"category_scores_gemma":[0.008781508,0.0003804124,0.0002816418,0.002647618,0.0006885112,0.0006977747,0.0006619327,0.0006455434,0.0002413373],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001689395,"about_ca_system_score_gemma":0.001795532,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.03256088,"about_ca_topic_score_gemma":0.04698022,"domain_scores_codex":[0.9980034,0.0005390664,0.0002245405,0.0003527096,0.0004906503,0.0003896969],"domain_scores_gemma":[0.9849457,0.003242144,0.008154714,0.0003008635,0.001096811,0.002259805],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00004162653,0.00003097504,0.9959695,0.00001878591,0.00001007182,0.001070024,0.0009899014,0.00003379566,0.0002054218,0.00002348658,0.0001814734,0.001425049],"study_design_scores_gemma":[0.000003432859,0.0001193,0.995169,0.00001828542,0.000005822262,0.002618514,0.001632779,0.00007430191,0.00005671209,0.000006067975,0.0002883752,0.000007423105],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9989088,0.0002267271,0.00005225161,0.00008121177,0.00000477841,0.00001129748,0.0002042073,0.000005234331,0.0005055104],"genre_scores_gemma":[0.999476,0.0001580234,0.00007620038,0.00004937177,0.000008756031,0.00001040143,0.0001360583,0.000002597471,0.00008263802],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.03256088,"threshold_uncertainty_score":0.06474274,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008207058673495601,"score_gpt":0.2587724188084566,"score_spread":0.2505653601349611,"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."}}