{"id":"W4318269842","doi":"10.1016/b978-0-323-99924-3.00007-8","title":"Metabolomics used in clinical diagnosis related to newborn screening","year":2023,"lang":"en","type":"book-chapter","venue":"Metabolomics","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":2,"is_retracted":false,"has_abstract":false,"ca_institutions":"McMaster University","funders":"","keywords":"Newborn screening; Medicine; Disease; Bioinformatics; Metabolomics; Exome sequencing; Population; Computational biology; Intensive care medicine; Biology; Mutation; Genetics; Pediatrics; Gene; Pathology","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","research_integrity"],"consensus_categories":[],"category_scores_codex":[0.001576208,0.0007747187,0.001408196,0.0004072591,0.00008337843,0.00006467968,0.0008415275,0.001544522,0.0001792123],"category_scores_gemma":[0.0007170874,0.0008289915,0.00063789,0.0002239258,0.0001883413,0.000006502824,0.0006644208,0.000777567,0.0006572147],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000009219992,"about_ca_system_score_gemma":0.0002430892,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0000355818,"about_ca_topic_score_gemma":0.0002845159,"domain_scores_codex":[0.9955782,0.0001689401,0.001653937,0.001488175,0.0003952994,0.0007153946],"domain_scores_gemma":[0.9975491,0.0001282816,0.0004346606,0.00134883,0.0001643353,0.0003748541],"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":[0.001198731,0.0005151129,0.06827357,0.0001733715,0.003762618,0.0001900403,0.000464495,0.003781579,0.004986132,0.06766991,0.08817152,0.7608129],"study_design_scores_gemma":[0.001481165,0.0001345147,0.0122762,0.00006231604,0.0003342578,0.000004519526,0.00004287035,0.0000478866,0.0007525719,0.003022103,0.9808903,0.000951234],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"other","genre_scores_codex":[0.602726,0.0614626,0.01208563,0.003976741,0.01904459,0.008842435,0.003407682,0.0007355064,0.2877188],"genre_scores_gemma":[0.005116933,0.07761882,0.03935676,0.003826017,0.001799177,0.0004036814,0.003507853,0.001183813,0.867187],"genre_candidate":"other","genre_consensus":null,"teacher_disagreement_score":0.8927189,"threshold_uncertainty_score":0.9997517,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03723482360460571,"score_gpt":0.3042089588571262,"score_spread":0.2669741352525205,"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."}}