lindenb / jvarkit

Java utilities for Bioinformatics
https://jvarkit.readthedocs.io/
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deletion without obvious coverage drop in the depth panel #131

Open shannjiang opened 5 years ago

shannjiang commented 5 years ago

Hi @lindenb ,

I am using the lowresbam2raster and successfully generated the CNV graphs. I have a question on the depth panel. Here are the two graphs generated:

s1329_trio1_F_DNcnv_chr13_21736017-21742126 s1329_trio1_C_DNcnv_chr13_21736017-21742126

Both of them are from the same region, and the second sample was identified to have a deletion here by LUMPY and DELLY (the CNV calling softwares) with SR (supportive reads) value equal to 10 (WGS converage is 30X). But I didn't see an obvious coverage drop of the depth in the second graph when compared to the depth of the first graph (without deletion in the region).

My question is: If there must be an obvious coverage drop in the depth panel so the deletion can be considered as true positive?

thanks,

Shan