From gene to dose: Long-read sequencing and *-allele tools to refine phenotype predictions of CYP2C19.

ABSTRACT: Background: Inter-individual differences in drug response based on genetic variations can lead to drug toxicity and treatment inefficacy. A large part of this variability is caused by genetic variants in pharmacogenes. Unfortunately, the Single Nucleotide Variant arrays currently used in clinical pharmacogenomic (PGx) testing are unable to detect all genetic variability in these genes. Long-read sequencing, on the other hand, has been shown to be able to resolve complex (pharmaco) genes. In this study we aimed to assess the value of long-read sequencing for research and clinical PGx focusing on the important and highly polymorphic CYP2C19 gene. Methods and Results: With a capture-based long-read sequencing panel we were able to characterize the entire region and assign

SUBMITTER: Graansma LJ 

PROVIDER: S-EPMC10014917 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature