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6.8 years ago
QVINTVS_FABIVS_MAXIMVS
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How do people normally treat heterozygous HaplotypeCaller variants on haploid chromosomes, like sex chromosomes in males?
Do you usually omit such calls? Or is there a method to resolve the genotypes. I assume GATK is sophisticated enough that most of the true positive calls on these chromosomes would be outputted as homozygous genotypes.
Don't forget the pseudoautosomal regions.
Those should be treated as diploid, so heterozygous calls are fine.