Hi everybody,
Can anyone suggest me an appropriate tool to detect CNVs from Target Resequencing data?. It should work on Ubuntu or Windows and be able to detect single exon CNVs.
Thanks for your help
Rudy
CNV= Copy Number Variation? If it is.
Try Breakdancer, Delly, Pindel each have different algorithms and can complement each other.
Hello Rudy,
i added a review Paper with an general method overview and a paper of ConVaDing, wich performs quite well (for a CNV tool). You are set for a long journey.
Good luck for your research
Article Whole-Genome CNV Analysis: Advances in Computational Approaches
Article CoNVaDING: Single exon variation detection in targeted NGS data
Hi,
I already test several tool on a panel of 300 genes and with positive control. And ExomeDepth gave me the best results. It is a R package, easy to use.
Hoping this could help you
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