Rare Mutation Detection w/ Digital PCR - ASHG 2014

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Among several technologies on display at the American Society for Human Genetics annual conference, digital PCR certainly has garnered some buzz over the past couple of years. The small but mighty QuantStudio 3D digital PCR system made its public debut two years ago in San Francisco, and it has some great enhancements to boot this year in San Diego – specifically around rare mutation analysis.

Product manager Dr. Iain Russell spoke with us about the new QuantStudio® 3D rare mutation analysis solution. The solution includes a subset of wet lab–validated TaqMan SNP Genotyping Assays to detect and quantify the most common cancer-related mutations (e.g., EGFR, BRAF, KRAS, PIK3CA, and JAK2) and is designed using the full bioinformatics power of the TaqMan Assay design pipeline. Wet lab–validated specifically for the QuantStudio 3D, researchers are now able to quantify rare mutants at a prevalence as low as 0.1%.

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