Detection of CNVs from vcf file
3
1
Entering edit mode
7.5 years ago
misbahabas ▴ 70

Aslam o Alikum

I am beginner in this field, I have vcf files of DOG genome data. Now,I want to detect CNVs from these files.Please tell me how to do this or is there any tool which detect CNVs from vcf files?? please tell me if anyone know.

Thanks in advance

genome CNV • 3.5k views
ADD COMMENT
4
Entering edit mode
7.5 years ago

Detecting CNVs from a VCF file would be what we call "a fool's errand". You'll want to use the BAM files instead. You can find appropriate tools if you google "CNV detection".

ADD COMMENT
0
Entering edit mode

on the other hand, the benefit of the VCF over coverage-only methods is that you know the allele-balance. If the DP is high for a few variants and those same variants show an allele-balance (e.g. alt / ref+alt) of 0.66 or 0.33, then you can be fairly confident it's a CNV.

ADD REPLY
1
Entering edit mode
7.5 years ago
d-cameron ★ 2.9k

You should only consider this if you cannot get access to the bam files.

The only tool I know of that performs what you're requesting is VCF2CNA http://biorxiv.org/content/early/2017/04/26/131235. I have not used it personally so I cannot vouch that is actually works as advertised.

ADD COMMENT
0
Entering edit mode
7.5 years ago
talalamin • 0

If you have bam files do not detect CVN from VCF files.

ADD COMMENT

Login before adding your answer.

Traffic: 2649 users visited in the last hour
Help About
FAQ
Access RSS
API
Stats

Use of this site constitutes acceptance of our User Agreement and Privacy Policy.

Powered by the version 2.3.6