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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5970273/
https://www.ncbi.nlm.nih.gov/pubmed/29802345
http://dx.doi.org/10.1038/s41467-018-04540-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5970273/
https://www.ncbi.nlm.nih.gov/pubmed/29802345
http://dx.doi.org/10.1038/s41467-018-04540-x

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