{"id":"W4312038197","doi":"10.2217/epi-2022-0287","title":"DNA methylation episignatures: insight into copy number variation","year":2022,"lang":"en","type":"review","venue":"Epigenomics","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":22,"is_retracted":false,"has_abstract":true,"ca_institutions":"London Health Sciences Centre; Western University","funders":"","keywords":"Biology; Epigenetics; Copy-number variation; DNA methylation; Genetics; Mendelian inheritance; Computational biology; Phenotype; Gene; Disease; Genome; Gene expression; Medicine","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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow","insufficient_payload"],"consensus_categories":[],"category_scores_codex":[0.0003882863,0.0004289768,0.0007046841,0.0001024201,0.0003360431,0.00007316832,0.0004386826,0.0005328095,0.0009531091],"category_scores_gemma":[0.00007868208,0.0004297081,0.0004384698,0.0001985226,0.00003839664,0.00000788162,0.0003187785,0.0003442434,0.0001473451],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002593795,"about_ca_system_score_gemma":0.0005715076,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0000568293,"about_ca_topic_score_gemma":0.00002477734,"domain_scores_codex":[0.9979321,0.0003302654,0.0006677245,0.0006041027,0.000177009,0.0002888424],"domain_scores_gemma":[0.9986848,0.0000641215,0.0004883537,0.0006224745,0.00005551648,0.00008468059],"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":[0.00006746182,0.0002641696,0.00006099281,0.005121453,0.001560801,0.00001717188,0.002783334,0.0002415834,0.0007813026,0.008208117,0.003578818,0.9773148],"study_design_scores_gemma":[0.0001418525,0.00006260771,0.00001106851,0.00008285556,0.0002867407,0.00002565132,0.00003652282,0.00000330267,0.0001885089,0.0004175755,0.9982706,0.0004727014],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.0002203577,0.9919471,0.001342914,0.00001739328,0.0008827932,0.0005918967,0.000189759,0.00002734967,0.004780507],"genre_scores_gemma":[0.0006857314,0.9896066,0.001523948,0.00009320215,0.0008107668,0.0002104642,0.005152715,0.000102433,0.001814112],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.9946918,"threshold_uncertainty_score":0.9999602,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02275893406270864,"score_gpt":0.289100451315933,"score_spread":0.2663415172532244,"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."}}