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Copy number variation detection using next generation sequencing read counts

BACKGROUND: A copy number variation (CNV) is a difference between genotypes in the number of copies of a genomic region. Next generation sequencing (NGS) technologies provide sensitive and accurate tools for detecting genomic variations that include CNVs. However, statistical approaches for CNV iden...

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Detalles Bibliográficos
Autores principales: Wang, Heng, Nettleton, Dan, Ying, Kai
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4021345/
https://www.ncbi.nlm.nih.gov/pubmed/24731174
http://dx.doi.org/10.1186/1471-2105-15-109