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pkrusche avatar pkrusche commented on August 24, 2024

You could set a genotype using bcftools annotate or run hap.py with --set-gt hom. Hap.py also includes a tool called alleles in the truth folder which can add genotype fields.

Note that hap.py will compare genotypes, so when setting truth genotypes to a particular value it will be a good idea to also do this for the query ones (--set-gt does that). This affects how the comparison is done:

  • --set-gt hom will require all alleles to be on the same haplotype. Overlapping alleles will lead to mismatches
  • --set-gt het allows for alleles to overlap by assigning them to maximally two haplotypes (i.e. three overlapping alleles will cause FPs).
  • vcfeval has an option called squash-ploidy. This option is similar to --set-gt hom but will only require one allele per VCF record to match for a TP (i.e. multiple alleles are treated as alternate hypotheses). Hap.py doesn't support passing this option to vcfeval currently, but this could be added quite easily.

Some discussion on this is here also: #42

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afzm avatar afzm commented on August 24, 2024

Thank you I formatted the golden.vcf to the format of a vcf file from a variant caller and it worked.

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pkrusche avatar pkrusche commented on August 24, 2024

Great, happy to help!

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