{"id":"W4387610109","doi":"10.1101/2023.10.11.23296741","title":"Diagnostic Utility of Genome-wide DNA Methylation Analysis in Genetically Unsolved Developmental and Epileptic Encephalopathies and Refinement of a CHD2 Episignature","year":2023,"lang":"en","type":"preprint","venue":"medRxiv","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"London Health Sciences Centre; Western University","funders":"Common Fund; NIH Office of the Director; National Health and Medical Research Council; Medical Research Council; University of Washington; Epilepsy Society; Cure Kids; National Institutes of Health; Epilepsiatutkimussäätiö; Health Research Council of New Zealand; National Human Genome Research Institute; Citizens United for Research in Epilepsy","keywords":"Biology; DNA methylation; Epigenetics; Genetics; Differentially methylated regions; DNA sequencing; Exome sequencing; Genome; Whole genome sequencing; Computational biology; Gene; Phenotype; Gene expression","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":[0.0004975494,0.0003812427,0.0002672012,0.0007553661,0.0002200614,0.0003011341,0.0002126188,0.0003817895,0.001305546],"category_scores_gemma":[0.001088419,0.0001579183,0.0002138441,0.0003408868,0.0002004912,0.0001481156,0.0003710522,0.0004857442,0.0002005619],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002396343,"about_ca_system_score_gemma":0.0001166085,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001630739,"about_ca_topic_score_gemma":0.002515614,"domain_scores_codex":[0.9996586,0.00006597037,0.00003364229,0.0001121652,0.00009105683,0.00003859492],"domain_scores_gemma":[0.9996524,0.0001176473,0.00006598148,0.00004241781,0.00008324613,0.00003819987],"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":[0.0007334272,0.00006809651,0.1534709,0.0000862872,0.0001595181,0.0007105103,0.0002133923,0.001450301,0.8124927,0.0002900025,0.0004301834,0.02989467],"study_design_scores_gemma":[0.00004889369,0.0006976756,0.3902553,0.00002908018,0.0002492569,0.004134823,0.0001647687,0.01538435,0.5842397,0.0005339956,0.004221529,0.0000406054],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9892204,0.0003574273,0.008712863,0.0001429371,0.00001084789,0.00003124932,0.00067,0.0001177797,0.0007364913],"genre_scores_gemma":[0.986505,0.0001512361,0.01192172,0.0001055519,0.000007806734,0.00002343628,0.0004952089,0.00001934623,0.0007707955],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001630739,"threshold_uncertainty_score":0.00436753,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01446084921440077,"score_gpt":0.2442107308415759,"score_spread":0.2297498816271751,"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."}}