{"id":"W2900595482","doi":"10.1038/s41467-018-07193-y","title":"BAFopathies’ DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin–Siris and Nicolaides–Baraitser syndromes","year":2018,"lang":"en","type":"article","venue":"Nature Communications","topic":"Chromatin Remodeling and Cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":124,"is_retracted":false,"has_abstract":true,"ca_institutions":"North York General Hospital; Université de Montréal; University of Calgary; Children's Hospital of Eastern Ontario; Alberta Children's Hospital; Children’s Health Research Institute; University of Ottawa; McMaster University; London Health Sciences Centre; Western University","funders":"Children's Health Foundation; London Health Sciences Centre; Children's Health Research Institute","keywords":"Epigenetics; DNA methylation; Genetics; SMARCA4; Methylation; Chromatin; Biology; SMARCB1; Chromatin remodeling; Computational biology; DNA; Gene","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":[0.0002358748,0.0002411535,0.0001864505,0.0009846612,0.0001159232,0.0002455623,0.0001240292,0.0002560357,0.001026281],"category_scores_gemma":[0.001013405,0.0001204897,0.0001337373,0.0003570297,0.0002105321,0.000137507,0.0002665902,0.0001967776,0.0001176135],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001262591,"about_ca_system_score_gemma":0.00007964916,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001354654,"about_ca_topic_score_gemma":0.001721667,"domain_scores_codex":[0.9998073,0.00003572477,0.0000188594,0.00007010593,0.00003887219,0.00002917206],"domain_scores_gemma":[0.9997622,0.00008422374,0.00007643564,0.0000253575,0.00001979989,0.00003198834],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001136865,0.00004089341,0.6129621,0.00003082966,0.0001263089,0.001624455,0.0003419545,0.001017673,0.3501927,0.0003950142,0.0001727898,0.03195831],"study_design_scores_gemma":[0.00001088861,0.0001007031,0.9715824,0.000006291822,0.00004091573,0.00548716,0.0001010401,0.003684124,0.01796577,0.0004643158,0.0005485868,0.000007919646],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.998073,0.0001156599,0.00100067,0.00002579079,0.000001288734,0.000003676475,0.0001702806,0.00002087837,0.0005886811],"genre_scores_gemma":[0.9990919,0.00004027501,0.0006198259,0.00001005676,0.000002011512,0.000002561638,0.0001187363,0.000003361922,0.0001114121],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001354654,"threshold_uncertainty_score":0.003433228,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01958776521359492,"score_gpt":0.2877006444164845,"score_spread":0.2681128792028896,"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."}}