StarTRAC-<i>CYP2D6</i>: a method for <i>CYP2D6</i> allele-specific copy number determination using digital PCR.

ABSTRACT:

Background

Accurate CYP2D6 genotyping is essential for pharmacogenetic-guided prescribing of many clinically used medications. While digital PCR is increasingly used to determine copy number (CN) status for accurate phenotype prediction, there are few convenient methods to discriminate duplicated alleles and diplotypes such as CYP2D6*2/*4x2 and *2x2/*4, which predict intermediate and normal metabolizer phenotypes, respectively. We developed a novel method, StarTRAC-CYP2D6, "Targeted Reporting of Allele-specific CNV", for determining the number of specific CYP2D6 star allele copies. Additionally, we explored the impact of DNA input and interfering variants on CN assay performance.

Methods

Coriell samples (n = 17)

SUBMITTER: Wang WY 

PROVIDER: S-EPMC12706154 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature