etal / cnvkit

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

Whole Genome sequencing CNV calling with a flat reference #803

Open justin-greenblatt opened 1 year ago

justin-greenblatt commented 1 year ago

I am working with CNV's in a large Whole Genome sequencing file and using a flat reference generated without normal inputs. I am not sure if cnvkit is the right tool for this task.

Is there any "self normalization" happening on the sample input that can give me good results with a flat reference?

Any wisdom on CNV calling in this situation is welcome as I am new and not familiar with this practice. Best Regards