{"id":"W4416647327","doi":"10.1038/s41431-025-01983-x","title":"Identification of an episignature for the MEF2C-associated syndrome","year":2025,"lang":"en","type":"article","venue":"European Journal of Human Genetics","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University Health Centre; Montreal Children's Hospital; London Health Sciences Centre; Western University","funders":"Government of Canada; Ontario Genomics; Ontario Genomics Institute; Genome Canada","keywords":"DNA methylation; Haploinsufficiency; Epigenetics; MEF2C; Neurodevelopmental disorder; CpG site; Human genetics; Biomarker","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":[0.0006202096,0.00007827763,0.0001072521,0.00004883836,0.0001095146,0.00002827278,0.0003933343,0.00003212623,0.00000380274],"category_scores_gemma":[0.00008675252,0.00005816374,0.0001363643,0.00005314457,0.00005686944,0.000002173841,0.00004767054,0.0000681777,5.185904e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000006756861,"about_ca_system_score_gemma":0.00005239953,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":2.305742e-7,"about_ca_topic_score_gemma":0.000002408589,"domain_scores_codex":[0.99918,0.0001396258,0.000401689,0.0001018594,0.00008518059,0.00009169333],"domain_scores_gemma":[0.9990236,0.00001618096,0.0003736851,0.0002422233,0.0003062108,0.00003815086],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.00007087877,0.0001773793,0.0003044898,0.00002850112,0.000293875,0.00002160036,0.0001018056,0.00111827,0.9900525,0.0001454148,0.003983034,0.003702216],"study_design_scores_gemma":[0.00449236,0.005048592,0.3947394,0.0001869286,0.00109153,0.0002070389,0.0008863753,0.0005655402,0.5448098,0.002115559,0.0452821,0.0005747782],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9931645,0.004095901,0.002127297,0.00008601153,0.0002293206,0.0001133546,0.0000331097,0.000001713359,0.0001488406],"genre_scores_gemma":[0.998903,0.0001853776,0.0001622307,0.00009997913,0.0001018867,8.251798e-7,0.00003070087,0.00001637882,0.0004996653],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4452428,"threshold_uncertainty_score":0.2371848,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008873599252505601,"score_gpt":0.2602190934341304,"score_spread":0.2513454941816248,"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."}}