Identification of rare de novo epigenetic variations in congenital disorders

Autor: Mafalda Barbosa, Ricky S. Joshi, Paras Garg, Alejandro Martin-Trujillo, Nihir Patel, Bharati Jadhav, Corey T. Watson, William Gibson, Kelsey Chetnik, Chloe Tessereau, Hui Mei, Silvia De Rubeis, Jennifer Reichert, Fatima Lopes, Lisenka E. L. M. Vissers, Tjitske Kleefstra, Dorothy E. Grice, Lisa Edelmann, Gabriela Soares, Patricia Maciel, Han G. Brunner, Joseph D. Buxbaum, Bruce D. Gelb, Andrew J. Sharp
Jazyk: angličtina
Rok vydání: 2018
Předmět:
Zdroj: Nature Communications, Vol 9, Iss 1, Pp 1-11 (2018)
Druh dokumentu: article
ISSN: 2041-1723
DOI: 10.1038/s41467-018-04540-x
Popis: A proportion of neurodevelopmental disorder and congenital anomaly cases remain without a genetic diagnosis. Here, the authors study aberrations of DNA methylation in such cases and find that epivariations might provide an explanation for some of these undiagnosed patients.
Databáze: Directory of Open Access Journals