Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

61
Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
61
Pharmacogenetics and Pharmacogenomics: Overview01:29

Pharmacogenetics and Pharmacogenomics: Overview

110
Pharmacogenetics and pharmacogenomics examine how genetic factors influence an individual's response to drugs. While pharmacogenetics focuses on the impact of specific genetic variants on drug effects, pharmacogenomics takes a broader approach, studying how genetic variation across populations contributes to differences in drug responses. These fields aim to explain why individuals may experience varying levels of efficacy or adverse reactions to the same medication.Variability in drug...
110
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu01:29

Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu

83
Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...
83
Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

70
The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...
70
Pharmacogenetics of Drug Metabolism: Overview01:27

Pharmacogenetics of Drug Metabolism: Overview

87
Genetic polymorphism in drug metabolism is crucial to the inter-individual variability observed in drug responses. Drug metabolism primarily involves the chemical modification of drugs and other xenobiotics to enhance their elimination by increasing their polarity. Two main classes of enzymes mediate this biotransformation process: Phase I enzymes, primarily cytochrome P450s, catalyze oxidation and reduction reactions, while other enzymes, such as esterases, mediate hydrolysis, and Phase II...
87
Pharmacogenetics of Phase I Enzymes: Cytochrome P450 Isozymes01:28

Pharmacogenetics of Phase I Enzymes: Cytochrome P450 Isozymes

90
Cytochrome P450 (CYP450) enzymes are a superfamily of heme-containing monooxygenases that play a pivotal role in Phase I drug metabolism by catalyzing oxidation and reduction reactions.These enzymes transform lipophilic xenobiotics into more hydrophilic metabolites, facilitating subsequent Phase II conjugation and eventual excretion. The CYP450 family is classified into families (e.g., CYP1–CYP3) and subfamilies (e.g., CYP2A, CYP2C), based on amino acid sequence homology.CYP450...
90

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

[Prognostic impact of lymphovascular invasion and efficacy of adjuvant therapy in patients with non-metastatic clear cell renal cell carcinoma: a single-center retrospective cohort study].

Zhonghua wai ke za zhi [Chinese journal of surgery]·2026
Same author

Competitive enzyme-linked immunosorbent assay to quantify hepcidin in horse serum.

Journal of equine veterinary science·2026
Same author

[Prognostic value of lymph node dissection in radical nephrectomy for cN0M0 renal cell carcinoma].

Zhonghua zhong liu za zhi [Chinese journal of oncology]·2026
Same author

Early detection of renal cell carcinoma: a novel cell-free DNA fragmentomics-based liquid biopsy assay.

ESMO open·2025
Same author

[Dynamic distribution and clearance of <sup>99m</sup>Tc-DTPA in brain extracellular space].

Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences·2025
Same author

[<i>Gandou Bushen</i> Decoction improves spermatogenesis and promotes spermatogenic cell proliferation in Wilson disease TX mice by activating testicular ERK signaling pathway].

Nan fang yi ke da xue xue bao = Journal of Southern Medical University·2024

Related Experiment Video

Updated: Mar 13, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
05:53

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

10.8K

Targeted Next-Generation Sequencing for Comprehensive Genetic Profiling of Pharmacogenes.

S M Han1, J Park1, J H Lee2

  • 1Department of Pharmacology, Yonsei University College of Medicine, Seoul, Korea.

Clinical Pharmacology and Therapeutics
|October 12, 2016
PubMed
Summary

Next-generation sequencing (NGS) panels effectively profile pharmacogenes, identifying rare variants with significant functional impact for personalized medicine. This approach enhances understanding of drug response variations.

More Related Videos

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

35.0K
Infinium Assay for Large-scale SNP Genotyping Applications
13:33

Infinium Assay for Large-scale SNP Genotyping Applications

Published on: November 19, 2013

40.0K

Related Experiment Videos

Last Updated: Mar 13, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
05:53

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

10.8K
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

35.0K
Infinium Assay for Large-scale SNP Genotyping Applications
13:33

Infinium Assay for Large-scale SNP Genotyping Applications

Published on: November 19, 2013

40.0K

Area of Science:

  • Pharmacogenomics
  • Genetics
  • Drug Discovery

Background:

  • Phenotypic variation in drug response is linked to pharmacogenomic loci, yet many require characterization.
  • Understanding these genetic factors is crucial for optimizing drug efficacy and safety.

Purpose of the Study:

  • To develop and validate next-generation sequencing (NGS) panels for comprehensive profiling of pharmacogenes.
  • To identify actionable and rare variants influencing pharmacokinetics (PKs) and pharmacodynamics (PDs).

Main Methods:

  • Development of NGS panels with optimized probes for capturing 114 PK/PD-related genes.
  • High-coverage (99.6%) and high-accuracy (99.9%) sequencing of a Korean cohort (n=376).
  • In vitro functional evaluation of selected pharmacogenes, including cytochrome P450 2C19 (CYP2C19).

Main Results:

  • Sequencing identified actionable and rare variants, with low-frequency variants enriched for protein-damaging and novel mutations.
  • In vitro studies confirmed significant functional impact for many rare pharmacogene variants.
  • The NGS panels demonstrated high efficiency in profiling both common and rare pharmacogenetic variants.

Conclusions:

  • Targeted NGS panels are effective platforms for comprehensive pharmacogene profiling.
  • Identification of rare variants is critical for understanding drug response and advancing personalized medicine.
  • These panels facilitate screening for variants that impact drug efficacy and safety.