{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000228748,0.0006384072,0.0003470648,0.001391237,0.0003380985,0.0003641538,0.0004141102,0.001064563,0.00671985],"category_scores_gemma":[0.001092803,0.0001604809,0.00046679,0.0003540043,0.0004114912,0.0001888931,0.0006375475,0.0007597169,0.0008350449],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002313123,"about_ca_system_score_gemma":0.0002485339,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008221388,"about_ca_topic_score_gemma":0.000626273,"domain_scores_codex":[0.9997396,0.00003369459,0.0000395944,0.00007225989,0.00007234588,0.00004256083],"domain_scores_gemma":[0.9993187,0.0002746542,0.0001168753,0.00006372132,0.00006990767,0.0001561191],"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":[0.0004357836,0.00006715429,0.00540166,0.00006683299,0.00006138597,0.01941648,0.0001192641,0.0002123674,0.9656046,0.001164796,0.0002408293,0.007208831],"study_design_scores_gemma":[0.0001790403,0.0007081226,0.1285215,0.00007360438,0.0003186777,0.09417631,0.0002406048,0.005808388,0.7549978,0.00136577,0.01352893,0.00008119424],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9846244,0.0005132461,0.009733391,0.0003681783,0.0001732174,0.0000741223,0.001030319,0.0002118878,0.00327112],"genre_scores_gemma":[0.9945797,0.0001732757,0.002712788,0.0001321349,0.00003535274,0.00003162327,0.0006257053,0.00006870643,0.001640825],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00671985,"threshold_uncertainty_score":0.02248019,"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."}}