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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Gepubliceerd in:Nat Commun
Hoofdauteurs: 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.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Nature Publishing Group UK 2018
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Article
Online toegang: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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