{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001229033,0.0005197847,0.0004128532,0.001349367,0.0002456764,0.0007528554,0.0002898846,0.0004345127,0.001138463],"category_scores_gemma":[0.003684732,0.0001682563,0.000439621,0.0005242949,0.0004992514,0.0005340709,0.0009398324,0.0006875176,0.000155313],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004085337,"about_ca_system_score_gemma":0.0002356374,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001094054,"about_ca_topic_score_gemma":0.001424191,"domain_scores_codex":[0.9995176,0.0001267925,0.00004353603,0.0001702362,0.0001001352,0.0000418565],"domain_scores_gemma":[0.9984992,0.00081931,0.000383219,0.0001322736,0.00009866327,0.00006727583],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.001054329,0.00006742813,0.6756061,0.0001781836,0.0003173935,0.0016179,0.000491921,0.02082044,0.1516406,0.005131954,0.0006514012,0.1424224],"study_design_scores_gemma":[0.00007837197,0.0004612647,0.5314006,0.0001242405,0.000455896,0.0124715,0.0006028684,0.2946996,0.1154793,0.03740828,0.006705541,0.0001125238],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9438208,0.001320231,0.05218597,0.0002728312,0.00001038487,0.00003452765,0.0005140366,0.0003644832,0.001476838],"genre_scores_gemma":[0.9883198,0.0002189471,0.01104869,0.00003694866,0.000008581073,0.000006610104,0.0001902407,0.00002481333,0.0001453657],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001349367,"threshold_uncertainty_score":0.006499827,"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."}}