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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Publicado no:Nat Commun
Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2018
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Article
Acesso em linha: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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