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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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5335817/
https://www.ncbi.nlm.nih.gov/pubmed/28253855
http://dx.doi.org/10.1186/s12859-017-1566-3