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Specialty Journal of Pharmacognosy, Phytochemistry, and Biotechnology

2024 Volume 4

High-Throughput Pharmacogene Haplotyping with Oxford Nanopore Adaptive Sampling in 1,036 Clinically Relevant Genes


, ,
  1. Department of Pharmacognosy, Faculty of Pharmacy, University of Yangon, Yangon, Myanmar.
Abstract

Pharmacogenomics (PGx) examines how genetic differences between individuals influence medication outcomes, creating the possibility of customizing drug dosing for each person. Existing focused PGx testing approaches primarily rely on microarrays, PCR-based systems, or short-read sequencing technologies. While these methods are effective for detecting single-nucleotide variants (SNVs) and insertion/deletion events (INDELs), they are not suitable for identifying large structural alterations or for delivering clear haplotype phasing needed for accurate star-allele classification. In this study, we applied adaptive sampling from Oxford Nanopore Technologies to selectively enrich a set of 1,036 pharmacogenomically relevant genes curated from the PharmGKB resource. By comparing the results to established reference datasets, we verified reliable variant detection and star-allele determination across five Genome in a Bottle samples. We also demonstrate that up to three samples may be multiplexed on a single PromethION flow cell without compromising performance, achieving recall and precision rates of 99.35% and 99.84% for the targeted loci. These findings promote the integration of nanopore sequencing into clinical PGx workflows.


How to cite this article
Vancouver
Kyaw A, Lin H, Thura M. High-Throughput Pharmacogene Haplotyping with Oxford Nanopore Adaptive Sampling in 1,036 Clinically Relevant Genes. Spec J Pharmacogn Phytochem Biotechnol. 2024;4:171-82. https://doi.org/10.51847/xutu52cul2
APA
Kyaw, A., Lin, H., & Thura, M. (2024). High-Throughput Pharmacogene Haplotyping with Oxford Nanopore Adaptive Sampling in 1,036 Clinically Relevant Genes. Specialty Journal of Pharmacognosy, Phytochemistry, and Biotechnology, 4, 171-182. https://doi.org/10.51847/xutu52cul2
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