Question: Popular CNV detection tools
0
gravatar for Floydian_slip
10 months ago by
Floydian_slip130
United States
Floydian_slip130 wrote:

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 • 706 views
ADD COMMENTlink modified 10 months ago by Kevin Blighe61k • written 10 months ago by Floydian_slip130
1
gravatar for MatthewP
10 months ago by
MatthewP670
China
MatthewP670 wrote:

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

ADD COMMENTlink written 10 months ago by MatthewP670
1
gravatar for Kevin Blighe
10 months ago by
Kevin Blighe61k
University College London
Kevin Blighe61k wrote:

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 COMMENTlink written 10 months ago by Kevin Blighe61k
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gravatar for bernatgel
10 months ago by
bernatgel2.6k
Barcelona, Spain
bernatgel2.6k wrote:

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 COMMENTlink written 10 months ago by bernatgel2.6k
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