Anatomy of DNA methylation signatures: Emerging insights and applications.

ABSTRACT: DNA methylation (DNAm) signatures are unique patterns of DNAm alterations defined for rare disorders caused by pathogenic variants in epigenetic regulatory genes. The potential of DNAm signatures (also known as "episignatures") is just beginning to emerge as there are >300 known epigenetic regulatory genes, ∼100 of which are linked to neurodevelopmental disorders. To date, approximately 50 signatures have been identified, which have proven unexpectedly successful as predictive tools for classifying variants of uncertain significance as pathogenic or benign. The molecular basis of these signatures is poorly understood. Furthermore, their relationships to primary disease pathophysiology have yet to be adequately investigated, despite clear demonstrations of potential connections. There are c

SUBMITTER: Chater-Diehl E 

PROVIDER: S-EPMC8387466 | biostudies-literature | 2021 Aug

REPOSITORIES: biostudies-literature