{"id":"W3036294658","doi":"10.20517/jtgg.2020.23","title":"EHMT1 pathogenic variants and 9q34.3 microdeletions share altered DNA methylation patterns in patients with Kleefstra syndrome","year":2020,"lang":"en","type":"article","venue":"Journal of Translational Genetics and Genomics","topic":"Cancer-related gene regulation","field":"Biochemistry, Genetics and Molecular Biology","cited_by":14,"is_retracted":false,"has_abstract":true,"ca_institutions":"Alberta Children's Hospital; University of Alberta; University of Calgary; McMaster University; University of Toronto; Hospital for Sick Children","funders":"Health and Medical Research Fund; Canadian Institutes of Health Research","keywords":"Haploinsufficiency; Genetics; DNA methylation; Biology; Hypotonia; Methylation; Williams syndrome; Epigenetics; Gene; Phenotype; 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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001009131,0.0001351512,0.0001694816,0.00007322857,0.00004724524,0.0000305536,0.0000734897,0.000115609,0.00001059238],"category_scores_gemma":[0.000006633066,0.0001310945,0.00004988649,0.00008229869,0.00003753938,0.00001280072,0.00002001003,0.0001157589,3.804456e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001642564,"about_ca_system_score_gemma":0.00009898272,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000001661757,"about_ca_topic_score_gemma":0.00002376053,"domain_scores_codex":[0.999083,0.00003942299,0.0003859318,0.0002073164,0.0001591165,0.0001252457],"domain_scores_gemma":[0.9994532,0.00001007151,0.0002009248,0.00007943398,0.0001411128,0.0001151842],"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":[0.001577851,0.0002465126,0.4035348,0.0001478652,0.0005372357,0.00001520192,0.001143493,0.07219794,0.4885735,0.0000560691,0.00009513074,0.03187442],"study_design_scores_gemma":[0.00254634,0.0006824568,0.9911915,0.00003247323,0.00007855707,0.00006375906,0.00002257836,0.001920005,0.002311113,0.0001333954,0.0008256505,0.0001921932],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9906102,0.001712293,0.006545712,0.0006837754,0.00006004323,0.0001801594,0.0002003194,0.000001643142,0.000005831912],"genre_scores_gemma":[0.9957721,0.0006572373,0.003086331,0.00009817602,0.0001568378,0.000001700215,0.0002028788,0.00002103508,0.000003743074],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5876567,"threshold_uncertainty_score":0.5345878,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008207438257809844,"score_gpt":0.204025203840125,"score_spread":0.1958177655823151,"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."}}