{"id":"W4387833843","doi":"10.1016/b978-0-443-21863-7.00012-3","title":"Epigenomic mechanisms and episignature biomarkers in rare diseases","year":2023,"lang":"en","type":"book-chapter","venue":"Elsevier eBooks","topic":"Epigenetics and DNA Methylation","field":"Biochemistry, Genetics and Molecular Biology","cited_by":2,"is_retracted":false,"has_abstract":false,"ca_institutions":"Western University","funders":"","keywords":"Epigenome; Epigenomics; Epigenetics; Biology; DNA methylation; Genetics; Genomic imprinting; Human genetics; Computational biology; 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":[0.0003146722,0.0003988662,0.000339063,0.0008506379,0.0001848128,0.001298417,0.0004721874,0.0008297347,0.01496088],"category_scores_gemma":[0.0002973222,0.0002216593,0.0001603261,0.0008162168,0.0005356072,0.001081508,0.0005631303,0.001049897,0.004535533],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004173381,"about_ca_system_score_gemma":0.0002513303,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003822702,"about_ca_topic_score_gemma":0.0007351166,"domain_scores_codex":[0.9999111,0.00001463051,0.000005506841,0.00002198172,0.00003774155,0.000008994435],"domain_scores_gemma":[0.9999024,0.0000560443,0.00001053459,0.000007091325,0.00001279266,0.00001118466],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0001324884,0.00004192006,0.0009620514,0.0007326727,0.00002888924,0.0009745603,0.000256236,0.0008110547,0.07768247,0.1317468,0.03609657,0.7505342],"study_design_scores_gemma":[0.0000118212,0.00009234407,0.002732868,0.0003142804,0.00002601993,0.003337659,0.000141434,0.0008425041,0.02688616,0.08027331,0.8853146,0.00002700092],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.02250979,0.6261238,0.06952429,0.009661036,0.003205023,0.00006131894,0.001126015,0.0007162792,0.2670724],"genre_scores_gemma":[0.09288793,0.3114287,0.02675833,0.002994968,0.002791178,0.0001251593,0.0009586278,0.0002241846,0.5618309],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.01496088,"threshold_uncertainty_score":0.05004913,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009618144849629466,"score_gpt":0.2296562858953927,"score_spread":0.2200381410457633,"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."}}