Looking for expected mutations in a VCF file
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6 weeks ago
langzvi • 0

Hi.
I've been trying to find a solution for this issue for the last days to no avail.
I got a VCF of an individual, in which I need to look for mutations in order to affirm or eliminate occurrence of a genetic disease. the the only file I got.
I found the associated genes and the candidate mutations, one of which is a gene duplication. I run the VCF in Ensembl-vep. I don't know if it's possible to detect a gene duplication with Ensembl-vep, but the other mutations are not seen in the results.

Should I look for the mutations in another way? Maybe vep is not a good choice for the task? If so, do you have any suggestions?
Thanks in advance!

vcf mutations-detection ensembl-vep • 180 views
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