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Table 3 Breeding advice for phenotype-associated non-reference variants that are found to be heterozygous

From: VariantscanR: an R-package as a clinical tool for variant filtering of known phenotype-associated variants in domestic animals

Inheritance pattern

Breeding advice

Autosomal dominant

Animal can NOT be used for breeding purposes

Autosomal recessive

Animal can be used for breeding purposes but ONLY if combined with a wild type animal. Offspring will be ± 50% carrier and ± 50% wild type

Mitochondrial*

If animal is female: animal can NOT be used for breeding purposes. Mitochondria are inherited maternally. If animal is male: animal can be used

X linked dominant

If animal is female: do NOT use animal for breeding purposes because ± 50% of the offspring will inherit the defective X chromosome

 

If animal is male, only one X chromosome is present. Accordingly, affected animals can NOT be used for breeding purposes as all female offspring will be carrier and thus will be affected

X linked recessive

If animal is female: animal can NOT be used for breeding purposes as ± 50% of male offspring will inherit the defective X chromosome and these male animals will develop symptoms

 

If animal is male, only one X chromosome will be present. Affected animals can be used ONLY if combined with a wild type female animal. Female offspring will be carrier of the variant

Y linked

The animal is male and can NOT be used for breeding purposes as every male offspring will inherit the defective Y chromosome

NA

Not able to provide breeding advice because inheritance pattern was not included in the input file

  1. *Mitochondrial heteroplasmy is the situation in which more than one type of mtDNA is present within a cell. Levels of heteroplasmy can vary between cells and tissues of one individual and influence the threshold for disease phenotype