{"id":"W2515141406","doi":"10.1186/s13148-016-0254-x","title":"Identification of a methylation profile for DNMT1-associated autosomal dominant cerebellar ataxia, deafness, and narcolepsy","year":2016,"lang":"en","type":"article","venue":"Clinical Epigenetics","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":79,"is_retracted":false,"has_abstract":true,"ca_institutions":"Ottawa Hospital; London Health Sciences Centre; McMaster University; Western University; Children's Hospital of Eastern Ontario; Children’s Health Research Institute; University of Ottawa","funders":"Canadian Institutes of Health Research; Children's Hospital of Eastern Ontario Foundation; Ontario Genomics; Ontario Genomics Institute; Genome Canada","keywords":"DNA methylation; Genetics; Biology; DNA methyltransferase; Methylation; CpG site; Epigenetics; Epigenomics; Ataxia; Gene; Gene expression; Neuroscience","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":[0.0001432275,0.0002612307,0.0001699228,0.0007435583,0.0002000693,0.0001643656,0.0001241799,0.0002607315,0.001390177],"category_scores_gemma":[0.0004546036,0.00008011305,0.0001266976,0.0002512654,0.0001335942,0.00006284657,0.0001483618,0.0001850741,0.0002362367],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002364812,"about_ca_system_score_gemma":0.00009336059,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002363334,"about_ca_topic_score_gemma":0.003059864,"domain_scores_codex":[0.9998912,0.00001053688,0.00001174974,0.00004398675,0.00002784558,0.00001466451],"domain_scores_gemma":[0.999822,0.00003195446,0.00005826894,0.00001320599,0.00003979452,0.00003481956],"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":[0.0004419054,0.0000417667,0.3187411,0.00007420137,0.00008691067,0.001638879,0.0003663004,0.0002501872,0.6663356,0.00005479924,0.0002342001,0.0117342],"study_design_scores_gemma":[0.00001458252,0.0003127431,0.9053339,0.00001216882,0.000125189,0.01424079,0.0001680219,0.001018223,0.07741176,0.0000783132,0.001272984,0.00001128994],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9983795,0.0002834513,0.0005975649,0.00001841694,0.000002118216,0.00001015584,0.0003997573,0.00002362093,0.0002854337],"genre_scores_gemma":[0.9985726,0.0000880167,0.0006585539,0.00001824823,0.000002497239,0.000006957924,0.0004259111,0.000007994481,0.0002192737],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002363334,"threshold_uncertainty_score":0.004699111,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.06233779080184717,"score_gpt":0.3565178564107731,"score_spread":0.294180065608926,"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."}}