etal / cnvkit

Copy number variant detection from targeted DNA sequencing
http://cnvkit.readthedocs.org
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Correct way to get SV BED/VCF #812

Closed Zenerzul closed 1 year ago

Zenerzul commented 1 year ago

I am interested in copy number variants in whole exome sequencing data and I need to get bed-file and vcf-file to inspect those. As stated in the instruction, I can achieve that by using export bed/vcf command on cns-file.

What would be the difference between using cnvkit.py export on .cns and .call.cns files after default cnvkit.py batch pipeline to get list of SV/CNV?

etal commented 1 year ago

With .cns, you'd get all regions, and with .call.cns, depending on the options, you could filter out the copy-neutral regions in the output file.

Zenerzul commented 1 year ago

Thx for the quick response!