A new digital PCR application for the QuantStudio® 3D Digital PCR System enables researchers to perform allele-specific copy number analysis to accurately phenotype the CYP2D6 gene, a key indicator of drug metabolism. The new application combines TaqMan® assays that are initially run on the QuantStudio® 12K Flex Real-Time PCR System with the QuantStudio® 3D Digital PCR System, allowing researchers precisely determine specific allele composition of samples with duplications in the CYP2D6 gene in less than a day. Aside from next generation sequencing, there has not been a direct way to distinguish between heterozygous alleles with unique polymorphisms.
This new application was showcased in a Featured In-Depth article in GenomeWeb.
More information can be found in the presentation CYP2D6 Allele Specific Copy Number Analysis Using TaqMan® SNP Genotyping Assays And Digital PCR