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

Systematic analysis of postzygotic mosaicism (PZM) is difficult due to challenges in detecting such events. Here, Wright et al. analyse trio exome sequencing data from blood and saliva of 4,293 probands with developmental disorders from the DDD Study and estimate that >3% of causative de novo mut...

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Autores principales:	C. F. Wright, E. Prigmore, D. Rajan, J. Handsaker, J. McRae, J. Kaplanis, T. W. Fitzgerald, D. R. FitzPatrick, H. V. Firth, M. E. Hurles
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2019
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/9f635f6cc33c4ec7a9a378410f7206d9
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spelling	oai:doaj.org-article:9f635f6cc33c4ec7a9a378410f7206d92021-12-02T16:57:09ZClinically-relevant postzygotic mosaicism in parents and children with developmental disorders in trio exome sequencing data10.1038/s41467-019-11059-22041-1723https://doaj.org/article/9f635f6cc33c4ec7a9a378410f7206d92019-07-01T00:00:00Zhttps://doi.org/10.1038/s41467-019-11059-2https://doaj.org/toc/2041-1723Systematic analysis of postzygotic mosaicism (PZM) is difficult due to challenges in detecting such events. Here, Wright et al. analyse trio exome sequencing data from blood and saliva of 4,293 probands with developmental disorders from the DDD Study and estimate that >3% of causative de novo mutations result from PZM.C. F. WrightE. PrigmoreD. RajanJ. HandsakerJ. McRaeJ. KaplanisT. W. FitzgeraldD. R. FitzPatrickH. V. FirthM. E. HurlesNature PortfolioarticleScienceQENNature Communications, Vol 10, Iss 1, Pp 1-11 (2019)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q C. F. Wright E. Prigmore D. Rajan J. Handsaker J. McRae J. Kaplanis T. W. Fitzgerald D. R. FitzPatrick H. V. Firth M. E. Hurles Clinically-relevant postzygotic mosaicism in parents and children with developmental disorders in trio exome sequencing data
description	Systematic analysis of postzygotic mosaicism (PZM) is difficult due to challenges in detecting such events. Here, Wright et al. analyse trio exome sequencing data from blood and saliva of 4,293 probands with developmental disorders from the DDD Study and estimate that >3% of causative de novo mutations result from PZM.
format	article
author	C. F. Wright E. Prigmore D. Rajan J. Handsaker J. McRae J. Kaplanis T. W. Fitzgerald D. R. FitzPatrick H. V. Firth M. E. Hurles
author_facet	C. F. Wright E. Prigmore D. Rajan J. Handsaker J. McRae J. Kaplanis T. W. Fitzgerald D. R. FitzPatrick H. V. Firth M. E. Hurles
author_sort	C. F. Wright
title	Clinically-relevant postzygotic mosaicism in parents and children with developmental disorders in trio exome sequencing data
title_short	Clinically-relevant postzygotic mosaicism in parents and children with developmental disorders in trio exome sequencing data
title_full	Clinically-relevant postzygotic mosaicism in parents and children with developmental disorders in trio exome sequencing data
title_fullStr	Clinically-relevant postzygotic mosaicism in parents and children with developmental disorders in trio exome sequencing data
title_full_unstemmed	Clinically-relevant postzygotic mosaicism in parents and children with developmental disorders in trio exome sequencing data
title_sort	clinically-relevant postzygotic mosaicism in parents and children with developmental disorders in trio exome sequencing data
publisher	Nature Portfolio
publishDate	2019
url	https://doaj.org/article/9f635f6cc33c4ec7a9a378410f7206d9
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Clinically-relevant postzygotic mosaicism in parents and children with developmental disorders in trio exome sequencing data

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