{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T04:55:07Z","timestamp":1791003307793,"version":"4.1.0"},"reference-count":66,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T00:00:00Z","timestamp":1790899200000},"content-version":"vor","delay-in-days":1,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T00:00:00Z","timestamp":1790812800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2026,10]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Epigenomic testing complements sequence\u2010based analysis by detecting downstream changes in epigenomic state associated with genetic variation. Genome\u2010wide DNA methylation episignatures are reproducible molecular phenotypes that can serve as biomarkers of specific Mendelian disorders, particularly those involving chromatin regulators, DNA methylation machinery, and transcriptional regulatory pathways.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We reviewed the biological basis, laboratory methodology, analytical approaches and clinical applications of DNA methylation episignature testing, with emphasis on neurodevelopmental disorders and rare diseases. We also considered current computational tools, limitations of clinical interpretation and emerging epigenomic and epitranscriptomic approaches.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>DNA methylation episignature testing is now used clinically to support molecular diagnosis, assist interpretation of variants of uncertain significance and distinguish overlapping neurodevelopmental and chromatin\u2010related disorders. Interpretation integrates methylation\u2010array data, statistical and machine\u2010learning classification, phenotype, genotype and assay\u2010specific validation. Important limitations include tissue specificity, mosaicism, developmental effects, incomplete disorder coverage and dependence on reference datasets. Emerging approaches include tissue\u2010agnostic classifiers, long\u2010read methylation profiling, additional epigenomic signatures and multi\u2010omic integration.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>DNA methylation episignatures provide a clinically useful functional layer of evidence by detecting downstream epigenomic consequences of genomic variation. They should be interpreted as an adjunct to sequence\u2010based diagnosis and clinical assessment rather than as a replacement for either. Continued expansion of reference datasets and integration with other functional genomic approaches should broaden their diagnostic utility.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mgg3.70319","type":"journal-article","created":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T04:50:41Z","timestamp":1791003041000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Clinical Epigenomics in Rare Diseases: Interpreting\n                    <scp>DNA<\/scp>\n                    Methylation Episignatures"],"prefix":"10.1002","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6448-6618","authenticated-orcid":false,"given":"Himanshu","family":"Goel","sequence":"first","affiliation":[{"name":"Hunter Genetics  Waratah New South Wales Australia"},{"name":"University of Newcastle  Callaghan New South Wales Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1753-5872","authenticated-orcid":false,"given":"Shuxiang","family":"Goh","sequence":"additional","affiliation":[{"name":"School of Clinical Medicine University of New South Wales  Sydney New South Wales Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luke","family":"Stuart","sequence":"additional","affiliation":[{"name":"Manchester University NHS Foundation Trust  Manchester UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,10,2]]},"reference":[{"issue":"1","key":"e_1_2_19_2_1","doi-asserted-by":"crossref","DOI":"10.1186\/s13073-023-01270-8","article-title":"Beyond the Exome: Utility of Long\u2010Read Whole Genome Sequencing in Exome\u2010Negative Autosomal Recessive Diseases","volume":"15","author":"AlAbdi L.","year":"2023","journal-title":"Genome Medicine"},{"issue":"4","key":"e_1_2_19_3_1","doi-asserted-by":"crossref","first-page":"685","DOI":"10.1016\/j.ajhg.2019.03.008","article-title":"Diagnostic Utility of Genome\u2010Wide DNA Methylation Testing in Genetically Unsolved Individuals With Suspected Hereditary Conditions","volume":"104","author":"Aref\u2010Eshghi E.","year":"2019","journal-title":"American Journal of Human Genetics"},{"issue":"10","key":"e_1_2_19_4_1","doi-asserted-by":"crossref","first-page":"1684","DOI":"10.1002\/humu.23833","article-title":"Genome\u2010Wide DNA Methylation and RNA Analyses Enable Reclassification of Two Variants of Uncertain Significance in a Patient With Clinical Kabuki Syndrome","volume":"40","author":"Aref\u2010Eshghi E.","year":"2019","journal-title":"Human Mutation"},{"issue":"3","key":"e_1_2_19_5_1","doi-asserted-by":"crossref","first-page":"356","DOI":"10.1016\/j.ajhg.2020.01.019","article-title":"Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders","volume":"106","author":"Aref\u2010Eshghi E.","year":"2020","journal-title":"American Journal of Human Genetics"},{"issue":"6","key":"e_1_2_19_6_1","doi-asserted-by":"crossref","DOI":"10.15252\/msb.20178124","article-title":"Multi\u2010Omics Factor Analysis\u2010a Framework for Unsupervised Integration of Multi\u2010Omics Data Sets","volume":"14","author":"Argelaguet R.","year":"2018","journal-title":"Molecular Systems Biology"},{"issue":"10","key":"e_1_2_19_7_1","doi-asserted-by":"crossref","first-page":"1363","DOI":"10.1093\/bioinformatics\/btu049","article-title":"Minfi: A Flexible and Comprehensive Bioconductor Package for the Analysis of Infinium DNA Methylation Microarrays","volume":"30","author":"Aryee M. 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