{"id":"W4402945101","doi":"10.1016/j.gim.2024.101283","title":"Microduplications of ARID1A and ARID1B cause a novel clinical and epigenetic distinct BAFopathy","year":2024,"lang":"en","type":"article","venue":"Genetics in Medicine","topic":"Chromatin Remodeling and Cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":6,"is_retracted":false,"has_abstract":true,"ca_institutions":"Western University; Centre Hospitalier Universitaire Sainte-Justine; Children's Hospital of Eastern Ontario; London Health Sciences Centre","funders":"Faculty of Medicine and Health, University of Sydney; Stichting Dondersfonds; Centre Hospitalier Universitaire de Nantes; Centre hospitalier universitaire Sainte-Justine; Università degli Studi di Torino; University Hospital Southampton NHS Foundation Trust; Universiteit Leiden; Leids Universitair Medisch Centrum; Universiteit Maastricht; ZonMw; University of New South Wales; Universiteit van Amsterdam; University of Southampton; Ministero della Salute; Institut National de Recherche pour l'Agriculture, l'Alimentation et l'Environnement; Amsterdam University Medical Centers; Maastricht Universitair Medisch Centrum","keywords":"ARID1A; Epigenetics; Genetics; Biology; Computational biology; Medicine; Gene; Mutation","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":[0.0001419218,0.0005170854,0.0003187705,0.001106284,0.0005029536,0.0002516211,0.0002463214,0.0005480301,0.002181026],"category_scores_gemma":[0.00106516,0.0002223593,0.0001580102,0.000572324,0.0005700407,0.0001668343,0.0004157788,0.0002437973,0.0002519464],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000241835,"about_ca_system_score_gemma":0.0002146201,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006182757,"about_ca_topic_score_gemma":0.0008901343,"domain_scores_codex":[0.9997497,0.00002164408,0.00002899814,0.0001086009,0.00005119884,0.00003984655],"domain_scores_gemma":[0.9995546,0.0001253411,0.0001554539,0.0000297087,0.00002792253,0.0001069229],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001390538,0.0002268472,0.4932137,0.0002561997,0.0001570668,0.1875897,0.0009806124,0.0005668504,0.2920718,0.0009139045,0.0009445471,0.02168817],"study_design_scores_gemma":[0.00009833668,0.0003633932,0.5237961,0.00002293762,0.00007056717,0.4568352,0.0002372147,0.00083254,0.01547351,0.0002846506,0.001961899,0.00002367982],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9989607,0.0001322514,0.0003296855,0.00004159151,0.000004270961,0.00001309522,0.0001751739,0.00001636019,0.0003268351],"genre_scores_gemma":[0.9989883,0.00004824336,0.0005118994,0.00002767368,0.00001236753,0.00001286653,0.0001871196,0.000004796661,0.0002065881],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002181026,"threshold_uncertainty_score":0.007296264,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03939644960432311,"score_gpt":0.3673115918431301,"score_spread":0.327915142238807,"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."}}