SeqCNV: a novel method for identification of copy number variations in targeted next-generation sequencing data

BACKGROUND: Targeted next-generation sequencing (NGS) has been widely used as a cost-effective way to identify the genetic basis of human disorders. Copy number variations (CNVs) contribute significantly to human genomic variability, some of which can lead to disease. However, effective detection of...

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Detalhes bibliográficos
Publicado no:BMC Bioinformatics
Main Authors: Chen, Yong, Zhao, Li, Wang, Yi, Cao, Ming, Gelowani, Violet, Xu, Mingchu, Agrawal, Smriti A., Li, Yumei, Daiger, Stephen P., Gibbs, Richard, Wang, Fei, Chen, Rui
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2017
Assuntos:
Methodology Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5335817/
https://ncbi.nlm.nih.gov/pubmed/28253855
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12859-017-1566-3
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