Update on next generation sequencing of pharmacokinetics-related genes: Development of the PKseq panel, a platform for amplicon sequencing of drug-metabolizing enzyme and drug transporter genes.

作者: Koya Fukunaga , Yukihide Momozawa , Taisei Mushiroda

DOI: 10.1016/J.DMPK.2020.11.005

关键词:

摘要: Genetic variation in pharmacokinetics (PK)-related genes encoding drug metabolizing enzymes or transporters is one of the most practical pharmacogenetic biomarkers for prediction explanation an individual's response to drugs. Many pharmacogenomic variations are identified using targeted, whole-exome, and whole-genome sequencing, number known novel alleles PK-related increasing. The high homology sequences among suspected lead potential read misalignment genotyping errors when short-read sequencing was performed. Therefore, highly efficient accurate next generation (NGS) platforms needed. We have developed PKseq, a targeted panel based on multiplex PCR, which targets coding regions 37 transporters, 30 cytochrome P450 isoforms, 10 UDP-glucuronosyltransferases, 5 flavin-containing monooxygenases, 4 glutathione S-transferases, sulfotransferases, other genes. In this review, we describe current NGS platforms, including PKseq panel, will be useful not only identification all variants associated with adverse reactions efficacy, but also clinical achieve pharmacogenomics-based stratified medicine.

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