Copy Number Variants, where to start?
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16 months ago
paolo ▴ 70

I am searching for a tool for CNV annotation that accepts as input a VCF file.

CNV annotation • 608 views
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what did you find so far ?

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I have found autoCNV, inCNV, and ClassifyCNV. The second one is for exomic CNVs only, and the third one does not run on Windows, but it might be the best one. I will start with the first one: autoCNV. What is not clear yet, is whether the software can handle thousands of CNVs or if you have to submit one at a time instead (as in the web interface).

If someone knows of a better option, please let me know.

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