Development and validation of animal variant classification guidelines to objectively evaluate genetic variant pathogenicity in domestic animals

HIGHLIGHTS

• What: Breeds not yet recognized by any major breed registry but with an established community of breed hobbyists were also considered breeds for the purposes of this study. While the first reason will become less Frontiers in Veterinary Science frontiersin.org 10.3389/fvets.2024.1497817 Null variant (nonsense, frameshift, canonical ±1 or 2 splice-sites, initiation_codon, single or multi-exon deletion) in a gene where LOF is a known mechanism of disease in the same or another species, if functionality of the gene is expected to be similar across species. As population and in silico data . . .
  

   

  

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