학술논문
DNA methylation episignature testing improves molecular diagnosis of Mendelian chromatinopathies
Document Type
Article
Author
Kerkhof, Jennifer; Squeo, Gabriella Maria; McConkey, Haley; Levy, Michael A.; Piemontese, Maria Rosaria; Castori, Marco; Accadia, Maria; Biamino, Elisa; Della Monica, Matteo; Di Giacomo, Marilena Carmela; Gervasini, Cristina; Maitz, Silvia; Melis, Daniela; Milani, Donatella; Piccione, Maria; Prontera, Paolo; Selicorni, Angelo; Sadikovic, Bekim; Merla, Giuseppe
Source
Genetics in Medicine; January 2022, Vol. 24 Issue: 1 p51-60, 10p
Subject
Language
ISSN
10983600; 15300366
Abstract
Chromatinopathies include more than 50 disorders caused by disease-causing variants of various components of chromatin structure and function. Many of these disorders exhibit unique genome-wide DNA methylation profiles, known as episignatures. In this study, the methylation profile of a large cohort of individuals with chromatinopathies was analyzed for episignature detection.