Frontiers in Genetics (Apr 2025)
Leveraging long-read sequencing technologies for pharmacogenomic testing: applications, analytical strategies, challenges, and future perspectives
Abstract
Long-read sequencing (LRS) was introduced as the third generation of next-generation sequencing technologies with a high accuracy rate in genomic variant identification for some of its platforms. Due to the structural complexity of many pharmacogenes, the presence of rare variants, and the limitations of genotyping and short-read sequencing approaches in detecting pharmacovariants, LRS methods are likely to become increasingly utilized in the near future. In this review, we aim to provide a comprehensive discussion of current and future applications of long-read genotyping methods by introducing the opportunities and advantages as well as the challenges and disadvantages of state-of-the-art LRS platforms for the implementation of pharmacogenomic tests in clinical and research settings. New approaches to data processing, as well as the challenges and pitfalls of performing such tests in daily practice, will be explored in detail. We provide references to resources for those who are interested or intend to employ LRS in pharmacogenomics screening, both in clinical and research settings.
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