Dr. Bielas has developed a sensitive, quantitative method to detect rare mutations in genomic and mitochondrial DNA. The main strategy is a three-step process starting with targeted enrichment for deletions, followed by amplification, and then analysis for quantification or characterization. This method shows improvements in specificity, sensitivity, and accuracy over other available methods. In addition, the lab observed a linear correlation between the fluorescence amplitude produced in droplet digital PCR (ddPCR) and the length of the amplified DNA molecule, which they named QuantiSize. QuantiSize is based off of the ddPCR absolute quantification system and adds in the ability to determine the size of a target DNA. This allows for accurate preparation of NGS libraries, while avoiding limitations of other quantification systems.
Detection of rare mutations in plurality of nucleic acid molecule
Determination of nucleic acid size using ddPCR
Development of assays using mtDNA deletions as biomarkers for diagnostic or early detection
Measures rare deletions at frequencies as low as 1 deletion per 100 million genomes
Accurate and precise method with high sensitivity
Saves time by measuring length and size concurrently
The global digital PCR and real-time PCR market is expected to grow at compound annual growth rate (CAGR) of 8.7% from $3 billion in 2017 to $6.3 billion in 2025. The NGS market is also growing rapidly with a CAGR of almost 20% with an expected value of $12 billion in 2022.
Jason Bielas, PhD, Public Health and Human Biology Divisions