Genetic Discovery Approach

Population Bio’s patented CNV Beacon® platform is a rapid genetic discovery method that focuses first on identifying disease-relevant copy number variants (CNVs). Once a gene or genomic region is discovered via a CNV, other types of genetic variants – such as single nucleotide variants (SNVs) – can be efficiently revealed to determine the full spectrum of variants that cause or influence development of a disease or response to a drug.

Our discovery approach is highly effective because:

  • CNVs have a reduced genome search space as compared to SNVs.
  • CNVs are much larger than SNVs and thus are more likely to impact gene function or expression.
  • Rare variants of high effect size can be found in small cohorts (e.g., clinical trials comprising only a few hundred patients).

To learn more about our CNV Beacon® platform and how we can accelerate your genetic biomarker discovery programs or find the genetic causes of disease in your patients, please contact us at