{"id":"W4384274263","doi":"10.1016/j.yebeh.2023.109338","title":"Recent advances in neurometabolic diseases: The genetic role in the modern era","year":2023,"lang":"en","type":"review","venue":"Epilepsy & Behavior","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":8,"is_retracted":false,"has_abstract":false,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"","keywords":"Medicine; Genetic testing; Exome sequencing; Genetics; Consanguinity; Epilepsy; Gene duplication; Bioinformatics; Pediatrics; Biology; Phenotype; Gene; Psychiatry","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":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0003392041,0.0005056613,0.0008612841,0.000163303,0.00008586615,0.00007096866,0.001266664,0.0002645754,0.000047572],"category_scores_gemma":[0.0001193381,0.0003026371,0.0003957305,0.0007017743,0.0001316097,0.000005633126,0.0002329428,0.0004600486,0.000076139],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000009314031,"about_ca_system_score_gemma":0.000271417,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002803196,"about_ca_topic_score_gemma":0.0003506165,"domain_scores_codex":[0.9968204,0.0007020345,0.0007339481,0.0007827474,0.0003368231,0.0006239791],"domain_scores_gemma":[0.9983616,0.0000638308,0.000225346,0.001222467,0.00003156102,0.00009515201],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.000006535367,0.0001749651,0.0009427339,0.000246592,0.00001394886,0.00002123448,0.00008238939,0.00002612907,0.000008704043,0.000008890129,0.0003049572,0.9981629],"study_design_scores_gemma":[0.0002507388,0.0000440505,0.02089458,0.0002712718,0.0004607211,0.00001409597,0.00008173518,0.00000428354,0.000001632513,0.0001027715,0.977532,0.0003420653],"study_design_candidate":"design_other","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.0054341,0.9918692,0.000005335318,0.00005906011,0.0004676125,0.001765405,0.0001852173,0.00001455975,0.0001995827],"genre_scores_gemma":[0.0002371819,0.9960573,0.00002522754,0.0002199956,0.0003192795,0.002312473,0.0004183585,0.00009497107,0.0003151756],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.9978209,"threshold_uncertainty_score":0.9999426,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02378796088767307,"score_gpt":0.3211781948997315,"score_spread":0.2973902340120584,"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."}}