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 info@populationbio.com.