{"id":"W4400929905","doi":"10.3389/fcell.2024.1413248","title":"Epigenetics in rare neurological diseases","year":2024,"lang":"en","type":"review","venue":"Frontiers in Cell and Developmental Biology","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":9,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Manitoba","funders":"Canadian Institutes of Health Research; Children's Hospital Research Institute of Manitoba; Ontario Rett Syndrome Association","keywords":"Epigenetics; Rett syndrome; Phenotype; Angelman syndrome; DNA methylation; Biology; Disease; Genetics; Etiology; MECP2; Neuroscience; Bioinformatics; Medicine; Gene; Pathology; 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":[0.0004866551,0.0007237201,0.0009805462,0.001825114,0.0002654891,0.0008116087,0.0006694337,0.001114898,0.003455487],"category_scores_gemma":[0.000672119,0.0001905125,0.000410345,0.001446296,0.0004687662,0.0009306521,0.0007970231,0.001401944,0.001397298],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006419072,"about_ca_system_score_gemma":0.001007061,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001087504,"about_ca_topic_score_gemma":0.001922421,"domain_scores_codex":[0.9998308,0.00003963928,0.00002634081,0.00002900016,0.00005588893,0.00001821525],"domain_scores_gemma":[0.999716,0.000167441,0.00003262627,0.000007429529,0.00005313447,0.00002334284],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00004812735,0.00003225095,0.0002987932,0.01486689,0.0001008851,0.0005216316,0.00009709446,0.0003526262,0.001843603,0.006150266,0.03276705,0.9429208],"study_design_scores_gemma":[0.00001205016,0.00004732889,0.001070513,0.003509145,0.0001149561,0.003427341,0.00006261246,0.00008720038,0.0004834674,0.002782391,0.9883842,0.00001874989],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.000100555,0.9982257,0.0001491881,0.0003054121,0.0002146639,0.000003655521,0.00001704188,0.000007531061,0.0009761717],"genre_scores_gemma":[0.0007236075,0.9981524,0.0001330333,0.00021831,0.0002373006,0.000004323306,0.00003589707,0.000001318998,0.0004937439],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.003455487,"threshold_uncertainty_score":0.01155978,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01449884211487742,"score_gpt":0.2567537492735406,"score_spread":0.2422549071586632,"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."}}