Detecting heterogeneous X chromosome counts in XXY individual

Question

[McKenna]

Hi,

I have a WGS of an individual with XXY DNA. I'd like to analyze their X calls to see what percentage are heterogeneous vs homogenous. I don't know what tool is the best for this.

Any suggestions would be really welcome. Thanks!

Answer 1

[Tash]

SNPsplit might work but it requires knowledge of the SNPs: https://www.bioinformatics.babraham.ac.uk/projects/SNPsplit/