{"id":"W4407350845","doi":"10.1111/epi.18315","title":"<scp><i>SCN1A</i></scp> pathogenic variants do not have a distinctive blood‐derived <scp>DNA</scp> methylation signature","year":2025,"lang":"en","type":"article","venue":"Epilepsia","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"London Health Sciences Centre; Western University","funders":"Health Research Council of New Zealand; National Health and Medical Research Council; Medical Research Council; Epilepsy Society; Epilepsiatutkimussäätiö; Cure Kids; Citizens United for Research in Epilepsy; American Epilepsy Society","keywords":"Dravet syndrome; DNA methylation; Missense mutation; Epilepsy; Gene; Biology; Genetics; Methylation; Phenotype; Nonsense; Computational biology; Bioinformatics; Gene expression; Neuroscience","routes":{"ca_aff":true,"ca_fund":false,"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":[0.0002433992,0.0002274392,0.0002128707,0.0004790638,0.0001628735,0.0002777001,0.0001588948,0.0002118377,0.001880329],"category_scores_gemma":[0.001063753,0.00009756549,0.0001491909,0.0004777997,0.0002887231,0.00009662471,0.0002264482,0.0002387747,0.0002181039],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001539417,"about_ca_system_score_gemma":0.0001187424,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002000835,"about_ca_topic_score_gemma":0.004351275,"domain_scores_codex":[0.9997048,0.00004267127,0.00003061336,0.0001273864,0.00006002053,0.00003440337],"domain_scores_gemma":[0.9995012,0.00012496,0.0001867225,0.00008380471,0.00005394784,0.00004932257],"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":[0.0009608227,0.00004720944,0.3647589,0.0001114651,0.0003911874,0.001112043,0.0003871482,0.0006848862,0.599134,0.0005128648,0.000813951,0.03108552],"study_design_scores_gemma":[0.00004684429,0.0002645957,0.90376,0.00002689039,0.0001784317,0.004397803,0.0001407215,0.002488944,0.08448801,0.0007008184,0.003489043,0.00001798523],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9939189,0.000198291,0.002842954,0.00005158802,0.000006186322,0.00001621615,0.001827816,0.00006753425,0.001070462],"genre_scores_gemma":[0.9972568,0.00005899738,0.001173658,0.00004301059,0.000003683098,0.00001345326,0.001173254,0.00002694747,0.0002502963],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002000835,"threshold_uncertainty_score":0.006290317,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006486802606151506,"score_gpt":0.2316111855579118,"score_spread":0.2251243829517603,"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."}}