Clinically-relevant postzygotic mosaicism in parents and children with developmental disorders in trio exome sequencing data

Mosaic genetic variants can have major clinical impact. We systematically analyse trio exome sequence data from 4,293 probands from the DDD Study with severe developmental disorders for pathogenic postzygotic mosaicism (PZM) in the child or a clinically-unaffected parent, and use ultrahigh-depth seq...

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Detalles Bibliográficos
Autores principales: Wright, C. F., Prigmore, E., Rajan, D., Handsaker, J., McRae, J., Kaplanis, J., Fitzgerald, T. W., FitzPatrick, D. R., Firth, H. V., Hurles, M. E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6611863/
https://www.ncbi.nlm.nih.gov/pubmed/31278258
http://dx.doi.org/10.1038/s41467-019-11059-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6611863/
https://www.ncbi.nlm.nih.gov/pubmed/31278258
http://dx.doi.org/10.1038/s41467-019-11059-2

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