{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0006906211,0.001148269,0.0008398247,0.002563775,0.0004492009,0.001588258,0.0009396475,0.001927863,0.01157681],"category_scores_gemma":[0.001266296,0.0004036599,0.0006029621,0.00217021,0.001379615,0.001908335,0.001342811,0.002067197,0.009575563],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0007696035,"about_ca_system_score_gemma":0.0005738873,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001088228,"about_ca_topic_score_gemma":0.001800568,"domain_scores_codex":[0.9995787,0.0001297592,0.00003232782,0.00007605283,0.0001582417,0.00002502483],"domain_scores_gemma":[0.9995762,0.0003077331,0.00001713226,0.00002810001,0.00005437996,0.00001657475],"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":[0.00009281469,0.00008464835,0.0005635702,0.001468609,0.00004213049,0.001534841,0.0003928324,0.001280926,0.007168447,0.135948,0.1512832,0.7001399],"study_design_scores_gemma":[0.000004656975,0.00005259572,0.0008099771,0.0006974646,0.00002453605,0.004238538,0.0001088192,0.0008358145,0.003726216,0.07705469,0.9124166,0.00003001848],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"other","genre_scores_codex":[0.002161578,0.5273235,0.09796855,0.007927199,0.01065475,0.0001864049,0.0006634204,0.0008485191,0.3522661],"genre_scores_gemma":[0.02212212,0.3615707,0.08672221,0.01001125,0.005256888,0.0002898481,0.0007012181,0.0005811762,0.5127444],"genre_candidate":"other","genre_consensus":null,"teacher_disagreement_score":0.01157681,"threshold_uncertainty_score":0.03872824,"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."}}