etal / cnvkit

Copy number variant detection from targeted DNA sequencing
http://cnvkit.readthedocs.org
Other
501 stars 162 forks source link

"Genemetrics" combination algorithm seems to include an additional antitarget bin #838

Open Liyang-Zhang opened 10 months ago

Liyang-Zhang commented 10 months ago

Hi @etal and everyone,

When checking the result of "cnvkit.py genemetrics", I found the algorithm consider a downstream antitarget bin when merging bins for each gene. I wonder if it is a bug or there are some reasons for it.

e.g. a part of the input cnr file: image

the output of genemetrics: image

The merged "BCL2L11" gene includes an antitarget bin from chr2 111888253 to 112037344.

version: 0.9.10 command line: cnvkit.py genemetrics -m 0 -t 0 ${copyratio_cnr} -o ${genemetrics_cns}

Bw, Leon