{"id":"W4312211280","doi":"10.1016/j.nmd.2022.12.003","title":"The discovery of the DNA methylation episignature for Duchenne muscular dystrophy","year":2022,"lang":"en","type":"article","venue":"Neuromuscular Disorders","topic":"Muscle Physiology and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":13,"is_retracted":false,"has_abstract":false,"ca_institutions":"London Health Sciences Centre; Western University","funders":"Western University; Muscular Dystrophy Canada","keywords":"Duchenne muscular dystrophy; DNA methylation; Epigenetics; Dystrophin; Bioinformatics; Muscular dystrophy; Medicine; Biomarker; Methylation; Disease; Genetics; Biology; 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":[0.0003203884,0.0002806885,0.0002669832,0.0005001821,0.0002488042,0.0003821775,0.0002382462,0.0005859162,0.001084804],"category_scores_gemma":[0.0006279597,0.0001809354,0.0001882853,0.0001876058,0.0004024238,0.0001916242,0.0004424755,0.0008256744,0.0001950204],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004807186,"about_ca_system_score_gemma":0.0003992675,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001389329,"about_ca_topic_score_gemma":0.001483776,"domain_scores_codex":[0.9998821,0.00002243317,0.00001160625,0.00003222913,0.00002757982,0.00002410529],"domain_scores_gemma":[0.9998198,0.0000637069,0.00002842521,0.00002237378,0.00002519855,0.00004064646],"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":[0.0003964422,0.00003313539,0.002925451,0.0001009018,0.00002341554,0.002055792,0.00007455364,0.0005178917,0.955914,0.003659257,0.0004847883,0.03381445],"study_design_scores_gemma":[0.00005087893,0.0005020479,0.0217008,0.00004074202,0.00006988386,0.006116505,0.00009338641,0.002324893,0.9411107,0.002011051,0.02594366,0.00003540633],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9571042,0.009117487,0.02220937,0.002761092,0.000382162,0.00008972659,0.0009635951,0.0004118389,0.006960504],"genre_scores_gemma":[0.9882234,0.002493378,0.004904481,0.0003928948,0.00006848591,0.00002691335,0.0003600214,0.00003803659,0.003492435],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001389329,"threshold_uncertainty_score":0.003629029,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.004021795335913303,"score_gpt":0.208286445455243,"score_spread":0.2042646501193297,"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."}}