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Targeted Next-Generation Sequencing for Comprehensive Genetic Profiling of Pharmacogenes

Authors
 SM Han  ;  J Park  ;  JH Lee  ;  SS Lee  ;  H Kim  ;  H Han  ;  Y Kim  ;  S Yi  ;  J-Y Cho  ;  I-J Jang  ;  MG Lee 
Citation
 Clinical Pharmacology & Therapeutics, Vol.101(3) : 396-405, 2017 
Journal Title
 Clinical Pharmacology & Therapeutics 
ISSN
 0009-9236 
Issue Date
2017
MeSH
Computer Simulation ; Cytochrome P-450 CYP2C19/genetics ; Cytochrome P-450 CYP2C19/metabolism ; Genetic Variation ; High-Throughput Nucleotide Sequencing/methods* ; Humans ; Pharmacogenetics/methods* ; Pharmacogenomic Testing/methods* ; Precision Medicine/methods ; Reproducibility of Results ; Republic of Korea
Abstract
Phenotypic differences in drug responses have been associated with known pharmacogenomic loci, but many remain to be characterized. Therefore, we developed next-generation sequencing (NGS) panels to enable broad and unbiased inspection of genes that are involved in pharmacokinetics (PKs) and pharmacodynamics (PDs). These panels feature repetitively optimized probes to capture up to 114 PK/PD-related genes with high coverage (99.6%) and accuracy (99.9%). Sequencing of a Korean cohort (n = 376) with the panels enabled profiling of actionable variants as well as rare variants of unknown functional consequences. Notably, variants that occurred at low frequency were enriched with likely protein-damaging variants and previously unreported variants. Furthermore, in vitro evaluation of four pharmacogenes, including cytochrome P450 2C19 (CYP2C19), confirmed that many of these rare variants have considerable functional impact. The present study suggests that targeted NGS panels are readily applicable platforms to facilitate comprehensive profiling of pharmacogenes, including common but also rare variants that warrant screening for personalized medicine.
Full Text
http://onlinelibrary.wiley.com/doi/10.1002/cpt.532/abstract
DOI
10.1002/cpt.532
Appears in Collections:
1. Journal Papers (연구논문) > 1. College of Medicine (의과대학) > Dept. of Pharmacology (약리학교실)
Yonsei Authors
박준희(Park, Joonhee)
이민구(Lee, Min Goo) ORCID logo https://orcid.org/0000-0001-7436-012X
한수민(Han, Soo Min)
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URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/154261
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