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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Publicat a:Nat Commun
Autors principals: 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.
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group UK 2019
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6611863/
https://ncbi.nlm.nih.gov/pubmed/31278258
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41467-019-11059-2
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