Is it a convention for displaying human males in VCF as homozygous diploid?
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4.8 years ago
curious ▴ 820

This isn't beagle specific but I was reading beagle's manual and see:

"At present, version 4 requires haploid male X-chromosome genotypes to be coded as homozygous diploid genotypes."

I started wondering, is showing males as homzygous diploid in VCFs a convention? Or at least common? It seems like it would help coding a ton for a lot of software which is kind of why I am wondering this.

https://faculty.washington.edu/browning/beagle/beagle_4.1_14Jan16.pdf

vcf diploid • 857 views
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