Application Note: Benign or Pathogenic? Assessing Genetic Variants Using “Precision Humanization” of Small Animal Models
28 September 2017

Genome data reveals many genes suspected for involvement in a patient’s disease contain high loads of VUS alleles. These are the clinical variants in patient DNA that are suspected to alter gene function and cause disease. Yet, many of these variations may actually be benign and harmless. To the physician’s chagrin, the presence of VUS alleles in a patient population clouds the ability of the clinical geneticist to make clear diagnostic recommendations. This whitepaper discusses the investigation of clinical variants by installing them in small animals for genetic screening.