{"id":"W2266635157","doi":"10.1093/pch/19.9.469","title":"Early identification of treatable inborn errors of metabolism in children with intellectual disability: The Treatable Intellectual Disability Endeavor protocol in British Columbia","year":2014,"lang":"en","type":"article","venue":"Paediatrics & Child Health","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":60,"is_retracted":false,"has_abstract":true,"ca_institutions":"Child and Family Research Institute; BC Children's Hospital; Pacific Centre for Reproductive Medicine; University of British Columbia","funders":"","keywords":"Intellectual disability; Etiology; Medicine; Autism; Pediatrics; Genetic testing; Disease; Epilepsy; Global developmental delay; Heart disease; Psychiatry; Bioinformatics; Intensive care medicine; Pathology; Genetics; Internal medicine; Phenotype; Biology","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":[0.008924284,0.001033471,0.001301171,0.001963399,0.004546206,0.002637105,0.003524582,0.001369367,0.007658652],"category_scores_gemma":[0.01450775,0.0006563788,0.001545079,0.002440619,0.0009315494,0.0008943621,0.00349292,0.002093016,0.001274498],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.03512996,"about_ca_system_score_gemma":0.1500798,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.8620325,"about_ca_topic_score_gemma":0.9488388,"domain_scores_codex":[0.9949341,0.001557433,0.0008146193,0.0003837596,0.001391209,0.0009188845],"domain_scores_gemma":[0.9883249,0.0009098094,0.001027812,0.0003105552,0.007015267,0.002411576],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.004631159,0.002262478,0.2224032,0.008262803,0.0005577868,0.001070014,0.003459827,0.003434223,0.001605967,0.007552519,0.4098741,0.3348859],"study_design_scores_gemma":[0.003618934,0.001244144,0.6521243,0.02404287,0.0007945908,0.0005495148,0.004080736,0.002749758,0.001467125,0.002771422,0.306235,0.0003215677],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"protocol","genre_gemma":"protocol","genre_scores_codex":[0.1725894,0.02077493,0.01759545,0.04326339,0.002972885,0.3384134,0.1733484,0.001359214,0.229683],"genre_scores_gemma":[0.3090087,0.0274,0.1221711,0.02526721,0.0005789851,0.3840441,0.07684574,0.0004628079,0.05422147],"genre_candidate":"protocol","genre_consensus":"protocol","teacher_disagreement_score":0.1379675,"threshold_uncertainty_score":0.2775601,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006124709201129818,"score_gpt":0.2372080262565271,"score_spread":0.2310833170553973,"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."}}