Popular CNV detection tools
3
0
Entering edit mode
5.2 years ago
Floydian_slip ▴ 170

Hi, I was wondering what are some of the popular CNV detection tools from NGS data? I am looking for ones that can also detect aneuploidy. Thanks!

CNV NGS • 2.9k views
ADD COMMENT
2
Entering edit mode
5.2 years ago
MatthewP ★ 1.4k

Cnvkit suits WES data, gatk can handle both WES and WGS data.

ADD COMMENT
1
Entering edit mode
5.2 years ago

There are too many CNV detection tools. For WES and WGS, I use Control FREEC, which works for paired (i.e., with a test and normal / reference sample) or unpaired analyses.

Kevin

ADD COMMENT
0
Entering edit mode
5.2 years ago
bernatgel ★ 3.4k

If you are working with gene panels, DECoN and panelcn.mops work quite well too. They are tuned to detect indels affecting a few exons or a gene and work best in germline.

ADD COMMENT

Login before adding your answer.

Traffic: 1727 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