Application Note: Benign or Pathogenic? Assessing Genetic Variants Using “Precision Humanization” of Small Animal Models
13 February 2018

The age of genomic and precision medicine is revolutionizing medical practices, but it is also revealing gaps in our knowledge of genetics. Each individual’s genome harbors a significant number of unique alleles that may impact the individual’s health in unpredictable ways. These are the clinical Variants of Uncertain (or Unknown) Significance (VUS). How do the physician and clinical geneticist make decisions in this noisy  background when trying to determine whether the gene mutation seen in the patient is benign or pathogenic?