IsNewlyHomozygousRef

A proband variant is newly homozygous if it is homozygous but genotypes of both of the parents are heterozygous.

A proband variant is assigned the category IsNewlyHomozygousRef if all of the following are true:

  • The variant is homozygous.

  • The variant's allele is the same as the reference.

  • The father's genotype is heterozygous at this variant position.

  • The mother's genotype is heterozygous at this variant position.

  • The frequency of the allele in the population is at most newly_homozygous_nonref_max_population_allele_frequency.