I did the CNV call one by one on my cohort of 26 samples. Of all the CNVs called, 253 out of 254 were on the X chromosome. All of these CNVs were called in males (although the cohort is almost equally made up of males and females).
However, I think I've used the --ploidy-chr parameter correctly, see exemple command below.
Hello,
I did the CNV call one by one on my cohort of 26 samples. Of all the CNVs called, 253 out of 254 were on the X chromosome. All of these CNVs were called in males (although the cohort is almost equally made up of males and females).
However, I think I've used the --ploidy-chr parameter correctly, see exemple command below.
Most of the CNVs called are deletions and have recurrent coordinates.
Here is the CNV called by Spectre :
Have I misunderstood the use of the --ploidy-chr parameter?
Thank you.