{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002812235,0.0001442493,0.0001584116,0.00009296552,0.0001016415,0.00001738503,0.00005643689,0.0001536729,8.694161e-7],"category_scores_gemma":[0.00006222219,0.000136421,0.00005272136,0.0001671701,0.00006205502,0.000006456304,0.00004098272,0.00004683168,0.000001566337],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001629002,"about_ca_system_score_gemma":0.00002313279,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000005897197,"about_ca_topic_score_gemma":0.00003229328,"domain_scores_codex":[0.9991145,0.0000531381,0.0002117237,0.0003307179,0.0001060165,0.0001839286],"domain_scores_gemma":[0.999285,0.0000563991,0.0002076634,0.0001943013,0.0002025854,0.00005403735],"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":[0.0005217677,0.0000319388,0.00706764,0.00003037088,0.00009513539,5.53197e-7,0.00009062282,0.0002925963,0.9804549,0.00002514374,0.00009953803,0.01128985],"study_design_scores_gemma":[0.000809914,0.0002932976,0.2370241,0.000009439863,0.00002585137,2.254359e-7,0.00007901456,0.0001660863,0.7568564,0.000255759,0.004316252,0.0001637011],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9782013,0.0005521954,0.02029518,0.00003752977,0.0001683948,0.000455587,0.0002107718,0.00001454857,0.00006449033],"genre_scores_gemma":[0.9974126,0.0005128057,0.001353718,0.00003228235,0.000102939,0.00001648866,0.0004942453,0.00003333193,0.00004154919],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2299564,"threshold_uncertainty_score":0.5563089,"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."}}