{"id":"W4412647599","doi":"10.1186/s13072-025-00612-7","title":"Identification of genetic and non-genetic modifiers of genomic imprinting through screening of imprinted DMR methylation in humans","year":2025,"lang":"en","type":"article","venue":"Epigenetics & Chromatin","topic":"Genetic Syndromes and Imprinting","field":"Biochemistry, Genetics and Molecular Biology","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"London Health Sciences Centre; Western University","funders":"Associazione Italiana per la Ricerca sul Cancro; Fondazione Telethon; Government of Canada; Ministero dell’Istruzione, dell’Università e della Ricerca; Genome Canada; Ontario Genomics; Ontario Genomics Institute","keywords":"Genomic imprinting; Biology; Imprinting (psychology); Genetics; Identification (biology); Human genetics; Methylation; DNA methylation; Computational biology; Evolutionary biology; Gene; Gene expression; Ecology","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":[0.0002416872,0.0001721502,0.000260146,0.0005874484,0.0001371684,0.0002387943,0.0001819695,0.0001745563,0.001471974],"category_scores_gemma":[0.0004472913,0.0001315689,0.000215354,0.000504008,0.0001816028,0.00008936664,0.0002751611,0.0001684024,0.0002054968],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001220421,"about_ca_system_score_gemma":0.0001052275,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001044975,"about_ca_topic_score_gemma":0.001048974,"domain_scores_codex":[0.9998124,0.00002981689,0.00001004081,0.0001068345,0.0000263642,0.00001460057],"domain_scores_gemma":[0.9998492,0.00004941942,0.00003908787,0.00003514912,0.00001186139,0.00001520779],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0007679918,0.0000552593,0.3258312,0.0003544427,0.0006474724,0.0008402216,0.0005669855,0.001185866,0.5848157,0.0005633205,0.0008993808,0.08347218],"study_design_scores_gemma":[0.00002928732,0.0002509959,0.9158328,0.00003695798,0.0002426013,0.003122541,0.0001166728,0.002694617,0.07094269,0.0008995765,0.0058064,0.00002478517],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.983313,0.001470589,0.01055105,0.000053226,0.000006398322,0.0000254782,0.003463725,0.0001187273,0.0009976431],"genre_scores_gemma":[0.989166,0.0006456966,0.007423867,0.00006061377,0.000008430638,0.00002613974,0.002150638,0.00003175475,0.0004870022],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001471974,"threshold_uncertainty_score":0.004924238,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009737937297583843,"score_gpt":0.2650308141940919,"score_spread":0.255292876896508,"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."}}