etal / cnvkit

Copy number variant detection from targeted DNA sequencing
http://cnvkit.readthedocs.org
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Cnvkit call and cnvkit genemetrics_differences + scatter plot #819

Open MartaRusmini opened 1 year ago

MartaRusmini commented 1 year ago

Dear all, I'm usign cnvkit in a germline-mode (no tumors). I set the threshold in "cnvkit call" and I can see several regions with different cn number in the output. Moreover I tried to used the genemetrics command in order to obtain the list of genes with CNV. If I well understood, with "call" I have the output based on big regions (not genes-specific), while genemetrics is focused only on genes. I have some questions:

Morover, I used the scatter plot in order to have a representation of the chromosome region with the CNV. This is the command: cnvkit.py scatter sample.call.cnr -s sample.call.cns --segment-color red -c chr5 -g genename --y-min -2 --y-max 2.5 -o nomeoutput.png (cnvkit version 0.9.9) The image is compound only with red dots with no light grey dots (as reference) as I saw in the web. Can you help me?

thank you in advance T-NGS_2276 cnv scatter