Long-Read Sequencing Enhances Pharmacogenomic Profiling by Resolving Complex Haplotypes, Novel Star Alleles, and Structural Variants.

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...

Topics

• Humans
• Haplotypes
• Pharmacogenetics
• Alleles
• Phenotype
• Genotype
• High-Throughput Nucleotide Sequencing
• Pharmacogenomic Testing