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CNVkit: Genome-Wide Copy Number Detection and Visualization from Targeted DNA Sequencing

Germline copy number variants (CNVs) and somatic copy number alterations (SCNAs) are of significant importance in syndromic conditions and cancer. Massively parallel sequencing is increasingly used to infer copy number information from variations in the read depth in sequencing data. However, this a...

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Detalles Bibliográficos
Autores principales:	Talevich, Eric, Shain, A. Hunter, Botton, Thomas, Bastian, Boris C.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2016
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4839673/ https://www.ncbi.nlm.nih.gov/pubmed/27100738 http://dx.doi.org/10.1371/journal.pcbi.1004873

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