{"id":"W4210442103","doi":"10.3390/ijms23031815","title":"Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome","year":2022,"lang":"en","type":"article","venue":"International Journal of Molecular Sciences","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":19,"is_retracted":false,"has_abstract":true,"ca_institutions":"London Health Sciences Centre; Western University","funders":"Ministero della Salute","keywords":"DNA methylation; Genome; Biology; Genetics; Methylation; Computational biology; Signature (topology); DNA; Gene; Gene expression","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":[0.000167457,0.0002666266,0.0002501548,0.0007440839,0.0001837459,0.0003180835,0.0001410815,0.0002991499,0.0009164246],"category_scores_gemma":[0.0007968268,0.0001109636,0.0001358751,0.0003454608,0.0002017784,0.0001274921,0.0003090871,0.0002008917,0.0001594644],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001279922,"about_ca_system_score_gemma":0.000108525,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007532533,"about_ca_topic_score_gemma":0.001006471,"domain_scores_codex":[0.9998372,0.00002277014,0.00001523574,0.00006868562,0.00003589047,0.00002026855],"domain_scores_gemma":[0.9997788,0.00005834561,0.00006801092,0.00001747334,0.00003039992,0.00004694339],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0005389408,0.00003869319,0.7201785,0.00006606346,0.0001255393,0.003379961,0.0003251314,0.0003616296,0.2562346,0.0001347768,0.0002978459,0.01831829],"study_design_scores_gemma":[0.00001921378,0.0002691927,0.9576713,0.00001105324,0.0001158282,0.01480336,0.0001820706,0.001530181,0.02393384,0.0002299574,0.001217536,0.00001630016],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.997866,0.0003453592,0.0007587418,0.00003483607,0.000004962285,0.0000130728,0.0003548681,0.0000235971,0.0005985299],"genre_scores_gemma":[0.9991279,0.00009070298,0.000384511,0.00002053911,0.000004431469,0.000007095434,0.0002215594,0.000004778883,0.0001383999],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0009164246,"threshold_uncertainty_score":0.003065705,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01624226153265572,"score_gpt":0.3154171773069957,"score_spread":0.29917491577434,"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."}}