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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2014
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3953210/
https://ncbi.nlm.nih.gov/pubmed/24625750
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0090894
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados