Identification of rare de novo epigenetic variations in congenital disorders
Mafalda Barbosa, Ricky S. Joshi, Paras Garg, Alejandro Martin-Trujillo, Nihir Patel, Bharati Jadhav, Corey T. Watson, William T. Gibson, Kelsey Chetnik, Chloé Tessereau, Hui Mei, Silvia De Rubeis, Jennifer G. Reichert, Fátima Lopes, Lisenka E.L.M. Vissers, , Andrew J. Sharp
The paper identifies de novo epigenetic variations in congenital disorders and shows their impact on gene expression and potential diagnostic relevance.
Nature Communications · May 21, 2018Peer-reviewedGenomics