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Is there any parameter to determine sex in delly cnv? #384

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zyxNo1 opened this issue May 31, 2024 · 1 comment
Open

Is there any parameter to determine sex in delly cnv? #384

zyxNo1 opened this issue May 31, 2024 · 1 comment
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@zyxNo1
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zyxNo1 commented May 31, 2024

Is there any parameter to determine sex when calling cnv in human? I noticed the parameter "--haploid-chr arg haploid chromosomes, e.g. chrX,chrY". Could this be helpful?

@tobiasrausch
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You can simply run delly cnv with default options and then plot all chromosomes. For humans, male samples should then show a copy-number of 1 for chrX and females a copy-number of 2.
The --haploid-chr option is only necessary for cancer samples with imperfect purity (normal cell contamination) where you can still use default options to determine sex but to adjust for normal cell contamination (option -p) you need to tell delly which chromosomes are haploid.

@tobiasrausch tobiasrausch self-assigned this Aug 5, 2024
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