3.10.1. Genotype Zygosity

This algorithm examines the genotypes for each sample and identifies them as one of the following:

  • Reference: Both alleles match the reference allele

  • Heterozygous: Two different alleles

  • Homozygous Variant: Both alleles are the same but are different than the reference allele.

  • Hemizygous: The single allele present is different than the reference allele.

Requirements

Requires a genotype (GT) sample level field.

Output

Creates a zygosity field for each sample.