TY  - JOUR
T1  - High-Throughput Pharmacogene Haplotyping with Oxford Nanopore Adaptive Sampling in 1,036 Clinically Relevant Genes
A1  - Aung Kyaw
A1  - Htet Lin
A1  - Min Thura
JF  - Specialty Journal of Pharmacognosy, Phytochemistry, and Biotechnology
JO  - Spec J Pharmacogn Phytochem Biotechnol
SN  - 3062-441X
Y1  - 2024
VL  - 4
IS  - 1
DO  - 10.51847/xutu52cul2
SP  - 171
EP  - 182
N2  - 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.
UR  - https://galaxypub.co/article/high-throughput-pharmacogene-haplotyping-with-oxford-nanopore-adaptive-sampling-in-1036-clinically-gg19tbhxwaqdulu
ER  -