Dear all,
I want to annotate a CNV file (with the txt format) with Variant Effect Predictor (VEP) in Ensembl.
I tried to use plink using the following command: mv CNV.txt CNV.map, but I got an error message: mv is not recognized as an internal or ....)
Can anyone guide me how to do this format conversion?
Looking forward your comments
Nazanin
1 answer
You just need the data in the format:
1 160283 471362 DUP
1 1385015 1387562 DEL
[source: https://www.ensembl.org/info/docs/tools/vep/vep_formats.html]
So, you need to set rules about copy number gain and loss based on the segment_mean column in your data. I have seen values of -0.2 / +0.2 and -0.3 / +0.3 used, in the past.
If, instead, you are only interested in which genes overlap your regions right away, then take a look at my answer here: How to extract the list of genes from TCGA CNV data
Further down on that page ( C: How to extract the list of genes from TCGA CNV data ), I then actually go over how you can merge your copy number aberrations into recurrent somatic coy number alterations (recSCNA) and show how you can eventually end up with regions as AMP (DUP) or DEL, which is suitable then for VEP.
Kevin
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