{"id":"W3172983054","doi":"10.1172/jci148272","title":"Untargeted metabolomics and infrared ion spectroscopy identify biomarkers for pyridoxine-dependent epilepsy","year":2021,"lang":"en","type":"article","venue":"Journal of Clinical Investigation","topic":"Metabolomics and Mass Spectrometry Studies","field":"Biochemistry, Genetics and Molecular Biology","cited_by":63,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Alberta; University of Toronto; BC Children's Hospital","funders":"Canadian Institutes of Health Research; Radboud Universiteit; Nederlandse Organisatie voor Wetenschappelijk Onderzoek; Stichting Stofwisselkracht","keywords":"Metabolomics; Pyridoxine; Epilepsy; Chemistry; Infrared spectroscopy; Spectroscopy; Medicine; Computational biology; Biochemistry; Biology; Chromatography; Psychiatry; Physics; Organic chemistry","routes":{"ca_aff":true,"ca_fund":true,"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":[0.001606292,0.0001398793,0.0004552114,0.00007631464,0.00007850079,0.00005310386,0.0001141596,0.0001866955,0.00001201517],"category_scores_gemma":[0.003287608,0.0001234052,0.0002570647,0.0001264712,0.0001505932,0.00001714334,0.0000839331,0.0001808035,9.435141e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000125899,"about_ca_system_score_gemma":0.0002227446,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000002200985,"about_ca_topic_score_gemma":0.00001066682,"domain_scores_codex":[0.9981233,0.000178463,0.001079206,0.0002665393,0.0001821782,0.000170247],"domain_scores_gemma":[0.9982394,0.0001483775,0.0007574298,0.000180574,0.0004965489,0.000177682],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0003301379,0.00007175803,0.03016781,0.0000278613,0.0005359317,0.000006182819,0.00002041513,0.00001310208,0.9613655,0.0005535576,0.005953911,0.0009538275],"study_design_scores_gemma":[0.002681111,0.0007205064,0.07110081,0.00002911081,0.0002708024,0.00005466482,0.0001490224,0.0001572191,0.8897744,0.01305679,0.02180159,0.0002039644],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9876253,0.003613879,0.006004931,0.001229998,0.001250946,0.0001332467,0.00002317624,0.000004097854,0.0001144506],"genre_scores_gemma":[0.9337562,0.00844829,0.05454808,0.001091557,0.001642852,0.000008109148,0.0001089584,0.00002987557,0.0003661163],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.07159109,"threshold_uncertainty_score":0.5032319,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04049993282197334,"score_gpt":0.3593608151586908,"score_spread":0.3188608823367174,"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."}}