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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Detalles Bibliográficos
Autores principales: Blake, Jonathon, Riddell, Andrew, Theiss, Susanne, Gonzalez, Alexis Perez, Haase, Bettina, Jauch, Anna, Janssen, Johannes W. G., Ibberson, David, Pavlinic, Dinko, Moog, Ute, Benes, Vladimir, Runz, Heiko
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3953210/
https://www.ncbi.nlm.nih.gov/pubmed/24625750
http://dx.doi.org/10.1371/journal.pone.0090894

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