Considering aneuploidy, ploidy, and CNV when performing ABHet filtering on VCF files
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27 days ago
Jackson • 0


I am looking to inquire whether there are any tools available that take into account aneuploidy, ploidy, and CNV in a genome when filtering VCF files. I am looking to filter my VCF files so that the ABHet (allelic balance at heterozygous sites) falls within an expected threshold. For example, an ABHet > 0.3 for diploid genomes.

I do not want to exclude SNPs however that are within regions of the genome that contains aneuploidy or copy number variation. At these sites, I would expect a different ratio for ABHet. Some of the genomes I am working with also have different ploidy (triploid), and would also have a different expected threshold for ABHet.

Are there any available tools that take into account these factors when filtering VCF files, or am I stuck with hard filtering across the VCF file and excluding SNPs that fall into these regions?


Aneuploidy VCF Filtering CNV ABHet • 64 views

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