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RVD: a command-line program for ultrasensitive rare single nucleotide variant detection using targeted next-generation DNA resequencing

BACKGROUND: Rare single nucleotide variants play an important role in genetic diversity and heterogeneity of specific human disease. For example, an individual clinical sample can harbor rare mutations at minor frequencies. Genetic diversity within an individual clinical sample is oftentimes reflect...

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Detalles Bibliográficos
Autores principales:	Cushing, Anna, Flaherty, Patrick, Hopmans, Erik, Bell, John M, Ji, Hanlee P
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2013
Materias:	Technical Note
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3695852/ https://www.ncbi.nlm.nih.gov/pubmed/23701658 http://dx.doi.org/10.1186/1756-0500-6-206

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