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Detecting heterogeneous X chromosome counts in XXY individual

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!

vcf wgs xxy

1 answer

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

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