{"id":"W4382201858","doi":"10.1093/noajnl/vdad076","title":"Clinical utility of whole-genome DNA methylation profiling as a primary molecular diagnostic assay for central nervous system tumors—A prospective study and guidelines for clinical testing","year":2023,"lang":"en","type":"article","venue":"Neuro-Oncology Advances","topic":"Glioma Diagnosis and Treatment","field":"Medicine","cited_by":33,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Gray Family Foundation; National Institute of Neurological Disorders and Stroke; National Cancer Institute; National Institutes of Health; Making Headway Foundation; Memorial Sloan-Kettering Cancer Center; National Institute of Biomedical Imaging and Bioengineering; Ira Sohn Research Conference Foundation; Friedberg Charitable Foundation; National Institute on Aging; Eli Lilly and Company","keywords":"DNA methylation; Concordance; Medical diagnosis; Epigenetics; Methylation; Medicine; Grading (engineering); Histopathology; Pathology; Bioinformatics; Biology; DNA; Internal medicine; Gene; Genetics; Gene expression","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.01783947,0.0003114111,0.0004915182,0.001162303,0.0004848022,0.001069896,0.0007654819,0.0009604385,0.0004653971],"category_scores_gemma":[0.0314051,0.0002882891,0.0003980176,0.001116623,0.0005557209,0.0005653118,0.0004960133,0.0005124743,0.0002447758],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0007506558,"about_ca_system_score_gemma":0.002246724,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003350382,"about_ca_topic_score_gemma":0.003909979,"domain_scores_codex":[0.9905193,0.005160359,0.001385764,0.001027934,0.001717437,0.0001891578],"domain_scores_gemma":[0.9732727,0.01038803,0.004961846,0.001903912,0.00848408,0.0009894375],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001402374,0.00006914217,0.9781514,0.00005484478,0.00004161073,0.0001025903,0.0001086616,0.0001280584,0.0005810737,0.0000674055,0.0006296289,0.0199253],"study_design_scores_gemma":[0.00007339711,0.0008442865,0.987963,0.0002537382,0.0001986121,0.001406027,0.000340748,0.003769362,0.001799984,0.000231855,0.0030877,0.00003131168],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9646456,0.01105791,0.01444893,0.002446458,0.0001128708,0.001142376,0.001668435,0.0001181477,0.004359345],"genre_scores_gemma":[0.9853065,0.001048878,0.01216222,0.0003752153,0.00005204732,0.0002607121,0.0006061737,0.00001351277,0.0001748243],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01783947,"threshold_uncertainty_score":0.09434527,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1102232782314005,"score_gpt":0.4414507641231145,"score_spread":0.331227485891714,"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."}}