{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001090898,0.0001752163,0.0004485819,0.00005233407,0.0001255086,0.00005623157,0.0003576454,0.0001246125,0.00002649686],"category_scores_gemma":[0.0008227079,0.0001759827,0.0001148769,0.0006026638,0.0003787975,0.00001436543,0.0001369789,0.000217165,0.000001353983],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00007964084,"about_ca_system_score_gemma":0.000287786,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.04121234,"about_ca_topic_score_gemma":0.06275656,"domain_scores_codex":[0.9975557,0.0003960563,0.0008612273,0.0005587832,0.0002305963,0.0003976901],"domain_scores_gemma":[0.9986273,0.0001547807,0.0003510554,0.0006542646,0.00009359966,0.000118997],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001806255,0.001074619,0.9862233,0.0001588165,0.00003943086,2.052555e-7,0.0008266374,0.0001256836,0.0001467589,0.00001175872,0.0002012265,0.01101088],"study_design_scores_gemma":[0.001469689,0.0004452114,0.9959821,0.00003137092,0.00003230932,0.00000904517,0.0003103753,0.00008500947,0.0007214824,0.0001209934,0.0006078838,0.0001844941],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9865428,0.0004753741,0.0001249904,0.0001168685,0.00003538217,0.01231262,0.000304017,0.000007845126,0.00008010265],"genre_scores_gemma":[0.9960803,0.0002466956,0.00009181865,0.0000596506,0.0001243201,0.003108415,0.0002312968,0.00002856401,0.00002890184],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.02154423,"threshold_uncertainty_score":0.9651723,"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."}}