{"id":"W4205971533","doi":"10.1016/j.gim.2021.12.003","title":"DNA methylation episignature in Gabriele-de Vries syndrome","year":2022,"lang":"en","type":"article","venue":"Genetics in Medicine","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":17,"is_retracted":false,"has_abstract":false,"ca_institutions":"London Health Sciences Centre; St Joseph's Health Care; Western University","funders":"Centre Hospitalier Universitaire de Rennes; Hospices Civils de Lyon; Universitetet i Oslo; Centre Hospitalier Universitaire de Poitiers; Centre Hospitalier Universitaire de Clermont-Ferrand; Centre Hospitalier Régional Universitaire de Montpellier; Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta; Centre National de la Recherche Scientifique; Genome Canada; University of California, San Diego; Texas Children's Hospital","keywords":"Missense mutation; DNA methylation; Genetics; Hypotonia; Phenotype; Methylation; Biology; DNA; Bioinformatics; Gene; Gene expression","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":[0.0001566801,0.0007648443,0.0003569197,0.00180112,0.0003447942,0.0003288692,0.0004417546,0.001058833,0.004287862],"category_scores_gemma":[0.001191068,0.0002462484,0.0002884023,0.0007286963,0.0004372342,0.0002052706,0.0003515423,0.0004478167,0.000328532],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002780464,"about_ca_system_score_gemma":0.0002662846,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00426141,"about_ca_topic_score_gemma":0.002514375,"domain_scores_codex":[0.9997407,0.00003827281,0.00003167386,0.00007237169,0.00006783123,0.00004912134],"domain_scores_gemma":[0.999635,0.0001536289,0.0001046297,0.00002289936,0.00002967623,0.00005415641],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.00115056,0.0001207944,0.09677167,0.0002268238,0.0002669689,0.4886115,0.001376412,0.001896185,0.3727804,0.002639739,0.0008529076,0.03330589],"study_design_scores_gemma":[0.0001090108,0.0003931625,0.2942946,0.00009686559,0.0005289012,0.5744891,0.0006670226,0.004649992,0.1134533,0.002109631,0.009113315,0.00009517903],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9942054,0.001153374,0.001073752,0.000325772,0.00004424686,0.00001772353,0.0003577267,0.00008342701,0.002738572],"genre_scores_gemma":[0.9980614,0.0002756166,0.0005004986,0.00003861279,0.00001819832,0.000004176409,0.00006937097,0.0000112494,0.001020817],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004287862,"threshold_uncertainty_score":0.01434433,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009411601342518772,"score_gpt":0.2481474446146138,"score_spread":0.238735843272095,"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."}}