Identification of rare de novo epigenetic variations in congenital disorders

Certain human traits such as neurodevelopmental disorders (NDs) and congenital anomalies (CAs) are believed to be primarily genetic in origin. However, even after whole-genome sequencing (WGS), a substantial fraction of such disorders remain unexplained. We hypothesize that some cases of ND–CA are c...

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Veröffentlicht in:Nat Commun
Hauptverfasser: Barbosa, Mafalda, Joshi, Ricky S., Garg, Paras, Martin-Trujillo, Alejandro, Patel, Nihir, Jadhav, Bharati, Watson, Corey T., Gibson, William, Chetnik, Kelsey, Tessereau, Chloe, Mei, Hui, De Rubeis, Silvia, Reichert, Jennifer, Lopes, Fatima, Vissers, Lisenka E. L. M., Kleefstra, Tjitske, Grice, Dorothy E., Edelmann, Lisa, Soares, Gabriela, Maciel, Patricia, Brunner, Han G., Buxbaum, Joseph D., Gelb, Bruce D., Sharp, Andrew J.
Format: Artigo
Sprache:Inglês
Veröffentlicht: Nature Publishing Group UK 2018
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Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5970273/
https://ncbi.nlm.nih.gov/pubmed/29802345
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41467-018-04540-x
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