Comparative evaluation of Oxford Nanopore Technologies' adaptive sampling and the Twist long-read PGx panel for pharmacogenomic profiling.

ABSTRACT: Clinical pharmacogenomics (PGx) testing strategies are mainly based on targeted PCR, microarrays, or short-read sequencing. These methods perform well for detecting known single-nucleotide variants (SNVs), small insertions/deletions (indels), and certain copy number variants (CNVs), but they fall short in resolving complex structural variants (SVs), particularly in complex pharmacogenes such as CYP2D6. Therefore, we previously developed a targeted PGx test based on long-read Oxford Nanopore Technologies (ONT) sequencing. Harnessing adaptive sampling (AS) for in silico enrichment of a panel of PGx genes, we illustrated superior performance in star-allele calling compared to the Genetic Testing Reference Materials Program (GeT-RM) truth set. However, accurate diplotyping of

SUBMITTER: Deserranno K 

PROVIDER: S-EPMC12455207 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature