{"id":"W4378745920","doi":"10.2217/epi-2023-0079","title":"Dna Methylation Episignatures are Sensitive and Specific Biomarkers for Detection of Patients with <i>Kat6A</i> / <i>Kat6B</i> Variants","year":2023,"lang":"en","type":"article","venue":"Epigenomics","topic":"Epigenetics and DNA Methylation","field":"Biochemistry, Genetics and Molecular Biology","cited_by":10,"is_retracted":false,"has_abstract":true,"ca_institutions":"London Health Sciences Centre; Université de Montréal; Western University","funders":"Ontario Genomics Institute","keywords":"Biology; DNA methylation; Genetics; Epigenetics; Computational biology; Gene; Bioinformatics; Gene expression","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0003359067,0.000425806,0.0002104873,0.0005791581,0.0001424122,0.0003323548,0.0002684747,0.0006242183,0.001463775],"category_scores_gemma":[0.0006132316,0.0002057124,0.0002795713,0.0002381765,0.0003764792,0.0003201334,0.0004820009,0.0007243058,0.0003307712],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001862973,"about_ca_system_score_gemma":0.0001155485,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003940548,"about_ca_topic_score_gemma":0.0007503175,"domain_scores_codex":[0.9997231,0.00005945052,0.00001721565,0.00008998661,0.00007420997,0.00003604361],"domain_scores_gemma":[0.9997117,0.00006243678,0.0001215811,0.00003517527,0.00003629863,0.00003277682],"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":[0.0001794453,0.00002307575,0.01052896,0.00005705875,0.00003099217,0.0002489471,0.00005608988,0.0001949963,0.9782485,0.0003724945,0.0001672876,0.00989203],"study_design_scores_gemma":[0.00001240299,0.0004458507,0.03970482,0.00002387226,0.00008875271,0.003381216,0.00009819515,0.002456432,0.9479846,0.001043116,0.00473565,0.00002499263],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9247818,0.005100539,0.06259804,0.00069113,0.0001050628,0.0001147399,0.00143107,0.0006854511,0.004492133],"genre_scores_gemma":[0.9802331,0.001671812,0.01498156,0.0001547124,0.00001905164,0.00006567781,0.0006544443,0.00005226802,0.002167548],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001463775,"threshold_uncertainty_score":0.00489682,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008214830689259756,"score_gpt":0.2161285141061985,"score_spread":0.2079136834169387,"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."}}