{"id":"W1848963797","doi":"10.1016/j.ajhg.2015.05.019","title":"Symmetrical Dose-Dependent DNA-Methylation Profiles in Children with Deletion or Duplication of 7q11.23","year":2015,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Williams Syndrome Research","field":"Neuroscience","cited_by":73,"is_retracted":false,"has_abstract":false,"ca_institutions":"University Health Network; Princess Margaret Cancer Centre; Hospital for Sick Children; University of Toronto","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Institute of Neurological Disorders and Stroke; Canadian Institutes of Health Research; Autism Speaks","keywords":"Epigenetics; CTCF; DNA methylation; Biology; Genetics; Gene duplication; Gene; Methylation; Chromatin; Phenotype; Gene expression; Enhancer","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":[0.0001894311,0.0002228439,0.0003934735,0.0008290036,0.0002176781,0.0002532853,0.000264719,0.0003455044,0.002509651],"category_scores_gemma":[0.0009588886,0.000234365,0.0002652184,0.0003974025,0.0002927925,0.0001170275,0.0002857058,0.0003376722,0.0004217381],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003031549,"about_ca_system_score_gemma":0.0001917263,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002367757,"about_ca_topic_score_gemma":0.003510995,"domain_scores_codex":[0.999589,0.00007198408,0.00002791428,0.0001309907,0.0001061426,0.00007392032],"domain_scores_gemma":[0.999603,0.0001466853,0.000110474,0.00003687851,0.00005336342,0.000049632],"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":[0.001893863,0.000115933,0.4411697,0.0001287634,0.0001699549,0.003760571,0.0008404151,0.0007410839,0.5304976,0.0002907483,0.0006440392,0.01974738],"study_design_scores_gemma":[0.00001888845,0.0003175841,0.9515194,0.00001317825,0.000098109,0.008460058,0.0003243723,0.0004296089,0.03764525,0.0001520384,0.001004366,0.00001698052],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9981118,0.0002193511,0.0003268184,0.00003344461,0.000003820556,0.000007976836,0.0005607441,0.00002811887,0.0007079498],"genre_scores_gemma":[0.9986315,0.0001507569,0.0002943584,0.0000246938,0.000003386019,0.00001221347,0.00045143,0.0000199156,0.0004116606],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002509651,"threshold_uncertainty_score":0.008395612,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.06347589658428689,"score_gpt":0.3380199896545308,"score_spread":0.274544093070244,"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."}}