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

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: 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
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2014-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC3953210?pdf=render

Internet

http://europepmc.org/articles/PMC3953210?pdf=render

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