Article
Long-Read Sequencing Enhances Pharmacogenomic Profiling by Resolving Complex Haplotypes, Novel Star Alleles, and Structural Variants.
Clinical pharmacology and therapeutics - 1 Feb 2026
Samarasinghe Sumudu Rangika, Gaedigk Andrea, Swen Jesse J, Guchelaar Henk-Jan, Nagaraj Shivashankar H
Abstract excerpt
Pharmacogenomics has shifted drug therapy from trial-and-error to personalized approaches by leveraging genetic biomarkers. However, traditional genotyping assays and short-read sequencing often fail to resolve structural complexity in pharmacogenes, leading to ambiguous haplotypes and incorrect phenotype predictions. To evaluate the potential of emerging long-read sequencing technologies in overcoming these...
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