StarTRAC-CYP2D6: a method for CYP2D6 allele-specific copy number determination using digital PCR

Zusammenfassung

Front Pharmacol. 2025 Dec 2;16:1715830. doi: 10.3389/fphar.2025.1715830 StarTRAC-CYP2D6: a method for CYP2D6 allele-specific copy number determination using digital PCR Wendy Y Wang Wendy Y Wang 1 Division of Clinical Pharmacology, Toxicology and Therapeutic Innovation, Children’s Mercy Research Institute (CMRI), Kansas City, MO, United States Conceptualization, Data curation, Investigation, Methodology, Project administration, Validation, Visualization, Writing – original draft, Writing – revie

Kerninformationen

Copyright © 2025 Wang, Boone, Lin, Joun and Gaedigk. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are cred...

DNA quantity and possible interfering variants should be considered when optimizing workflows and accurately interpreting results. Protocols are currently being developed for higher-plex CN testing and discrimination.Keywords: CYP2D6, copy number variation, allele-specific PCR, digital PCR, genotypi...

With the frequency of SVs in the United States being estimated at 3.5%–8.4% (depending on ancestry), it is imperative for any CYP2D6 genotyping platform or implementation program to accurately capture SVs (Black et al., 2012; Del Tredici et al., 2018; Patel et al., 2024). Current stand-alone CNV met...

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