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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Bibliografske podrobnosti
izdano v: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
Format: Artigo
Jezik:Inglês
Izdano: Nature Publishing Group 2017
Teme:
Article
Online dostop: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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