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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Main Authors:	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
Format:	Article
Language:	English
Published:	Nature Publishing Group 2019-07-01
Series:	Nature Communications
Online Access:	https://doi.org/10.1038/s41467-019-11059-2

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spelling	doaj-9f635f6cc33c4ec7a9a378410f7206d92021-05-11T12:10:03ZengNature Publishing GroupNature Communications2041-17232019-07-0110111110.1038/s41467-019-11059-2Clinically-relevant postzygotic mosaicism in parents and children with developmental disorders in trio exome sequencing dataC. F. Wright0E. Prigmore1D. Rajan2J. Handsaker3J. McRae4J. Kaplanis5T. W. Fitzgerald6D. R. FitzPatrick7H. V. Firth8M. E. Hurles9Institute of Biomedicine and Clinical Science, College of Medicine and Health, University of Exeter, RILD Building, Royal Devon and Exeter HospitalWellcome Sanger Institute, Wellcome Genome CampusWellcome Sanger Institute, Wellcome Genome CampusWellcome Sanger Institute, Wellcome Genome CampusWellcome Sanger Institute, Wellcome Genome CampusWellcome Sanger Institute, Wellcome Genome CampusEuropean Bioinformatics Institute (EMBL-EBI), Wellcome Genome CampusMRC Human Genetics Unit, University of EdinburghWellcome Sanger Institute, Wellcome Genome CampusWellcome Sanger Institute, Wellcome Genome CampusSystematic 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.https://doi.org/10.1038/s41467-019-11059-2
collection	DOAJ
language	English
format	Article
sources	DOAJ
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
spellingShingle	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 Nature Communications
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 Publishing Group
series	Nature Communications
issn	2041-1723
publishDate	2019-07-01
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.
url	https://doi.org/10.1038/s41467-019-11059-2
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Clinically-relevant postzygotic mosaicism in parents and children with developmental disorders in trio exome sequencing data

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