Validation of copy number variation analysis for next-generation sequencing diagnostics

Although a common cause of disease, copy number variants (CNVs) have not routinely been identified from next-generation sequencing (NGS) data in a clinical context. This study aimed to examine the sensitivity and specificity of a widely used software package, ExomeDepth, to identify CNVs from target...

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Detalhes bibliográficos
Publicado no:Eur J Hum Genet
Main Authors: Ellingford, Jamie M, Campbell, Christopher, Barton, Stephanie, Bhaskar, Sanjeev, Gupta, Saurabh, Taylor, Rachel L, Sergouniotis, Panagiotis I, Horn, Bradley, Lamb, Janine A, Michaelides, Michel, Webster, Andrew R, Newman, William G, Panda, Binay, Ramsden, Simon C, Black, Graeme CM
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2017
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5427176/
https://ncbi.nlm.nih.gov/pubmed/28378820
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2017.42
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