{"id":"W4200259328","doi":"10.1016/j.xhgg.2021.100075","title":"Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders","year":2021,"lang":"en","type":"article","venue":"Human Genetics and Genomics Advances","topic":"Epigenetics and DNA Methylation","field":"Biochemistry, Genetics and Molecular Biology","cited_by":157,"is_retracted":false,"has_abstract":true,"ca_institutions":"Children's Hospital of Eastern Ontario; University of Ottawa; Children’s Health Research Institute; Université de Montréal; Manitoba Health; BC Children's Hospital; Children's & Women's Health Centre of British Columbia; University of British Columbia; Western University; Newborn Screening Ontario; Centre Hospitalier Universitaire Sainte-Justine; London Health Sciences Centre","funders":"Children’s Hospital of Wisconsin Research Institute; Ministero della Salute; Murdoch Children's Research Institute; Royal Children's Hospital Foundation; Children's Hospital Foundation; State Government of Victoria; London Health Sciences Centre; Ministero dell’Istruzione, dell’Università e della Ricerca; Genome Canada","keywords":"Epigenetics; DNA methylation; Mendelian inheritance; Biology; OMIM : Online Mendelian Inheritance in Man; Genetics; Computational biology; Disease; Gene; Phenotype; Copy-number variation; Bioinformatics; Medicine; Genome; Gene expression; Pathology","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":[0.0002041489,0.0001819896,0.0001862807,0.0000408976,0.0002084629,0.00004583022,0.000114595,0.0001114508,0.000007458196],"category_scores_gemma":[0.0001039807,0.0001515448,0.00005228386,0.00007970624,0.0001483221,0.000005133983,0.0001482685,0.00007707725,2.746022e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000005084526,"about_ca_system_score_gemma":0.00003778292,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001149203,"about_ca_topic_score_gemma":0.0007601379,"domain_scores_codex":[0.998939,0.00005908074,0.0003061707,0.0003854664,0.0001219807,0.0001882715],"domain_scores_gemma":[0.9992594,0.0001074236,0.000158617,0.0002992606,0.0001052262,0.00007009961],"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":[0.00001266675,0.00004374577,0.007398821,0.00004135384,0.00004649843,4.934635e-7,0.0001986957,0.001993195,0.9603196,0.0003592533,0.000009801723,0.02957591],"study_design_scores_gemma":[0.0009171802,0.0004014967,0.09390914,0.00002521585,0.00009827664,0.000006522996,0.000346631,0.0003221637,0.8449192,0.01115129,0.04751434,0.0003885317],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.84996,0.1457919,0.003560337,0.0001674796,0.00008373881,0.0001513056,0.00003789181,0.000003616425,0.000243707],"genre_scores_gemma":[0.9248226,0.07240821,0.002365371,0.00005048975,0.0001237676,0.00001369602,0.0001047058,0.00002318772,0.00008802554],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1154004,"threshold_uncertainty_score":0.6179816,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009262011198729759,"score_gpt":0.2594213261908568,"score_spread":0.250159314992127,"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."}}