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Article

Anatomy of DNA methylation signatures: Emerging insights and applications.

American journal of human genetics - 5 Aug 2021

Chater-Diehl Eric, Goodman Sarah J, Cytrynbaum Cheryl, Turinsky Andrei L, Choufani Sanaa, Weksberg Rosanna

Abstract excerpt

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...

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Identifiers

PMID: 34297908
DOI: 10.1016/j.ajhg.2021.06.015
PMCID: PMC8387466

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