A proband variant is heterozygous non-ref if it is heterozygous and neither allele is the reference allele. The variant is newly heterozygous non-ref if the genotypes of both parents contain the reference allele.
A proband variant is assigned the category IsNewlyHeterozygousNonRef if all of the following are true:
The variant is heterozygous.
Neither of the variant's alleles is the same as the reference.
The father's genotype contains the reference allele at this variant position.
The mother's genotype contains the reference allele at this variant position.
The variant's functional annotations include at least one specified by newly_homozygous_nonref_functional_types.
The frequency in the population of at least one of its alleles is at most newly_homozygous_nonref_max_population_allele_frequency.
This situation can indicate a recessive trait or condition, in which the parents carry the same deleterious mutations but are unaffected because they are heterozygous-ref.
Note: The parameters newly_homozygous_nonref_functional_types and newly_homozygous_nonref_max_population_allele_frequency are used in both the IsNewlyHomozygousNonRef and IsNewlyHeterozygousNonRef categories.
