Sequencing of a patient with balanced chromosome abnormalities and neurodevelopmental disease identifies disruption of multiple high risk loci by structural variation

Balanced chromosome abnormalities (BCAs) occur at a high frequency in healthy and diseased individuals, but cost-efficient strategies to identify BCAs and evaluate whether they contribute to a phenotype have not yet become widespread. Here we apply genome-wide mate-pair library sequencing to charact...

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Bibliographic Details

Main Authors:	Blake, Jonathon (Author) , Riddell, Andrew (Author) , Theiß, Susanne (Author) , Gonzalez, Alexis Perez (Author) , Haase, Bettina (Author) , Jauch, Anna (Author) , Janssen, Johannes W. G. (Author) , Ibberson, David (Author) , Pavlinic, Dinko (Author) , Moog, Ute (Author) , Benes, Vladimir (Author) , Runz, Heiko (Author)
Format:	Article (Journal)
Language:	English
Published:	March 13, 2014
In:	PLOS ONE Year: 2014, Volume: 9, Issue: 3
ISSN:	1932-6203
DOI:	10.1371/journal.pone.0090894
Online Access:	Resolving-System, lizenzpflichtig, Volltext: https://doi.org/10.1371/journal.pone.0090894 Verlag, lizenzpflichtig, Volltext: https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0090894
Author Notes:	Jonathon Blake, Andrew Riddell, Susanne Theiss, Alexis Perez Gonzalez, Bettina Haase, Anna Jauch, Johannes W. G. Janssen, David Ibberson, Dinko Pavlinic, Ute Moog, Vladimir Benes, Heiko Runz