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

Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

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...
Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

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...
Pharmacogenetics and Pharmacogenomics: Overview01:29

Pharmacogenetics and Pharmacogenomics: Overview

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...
Pharmacogenetics of Drug Metabolism: Overview01:27

Pharmacogenetics of Drug Metabolism: Overview

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...
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu01:29

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

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...

You might also read

Related Articles

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

Sort by
Same author

Correction to: Sequencing and comparative genome analysis of three Indians.

Mammalian genome : official journal of the International Mammalian Genome Society·2021
Same author

Sequencing and comparative genome analysis of three Indians.

Mammalian genome : official journal of the International Mammalian Genome Society·2021
Same author

EpiMix Based Novel Vaccine Candidate for <i>Shigella</i>: Evidence of Prophylactic Immunity in Balb/c Mice.

International journal of peptide research and therapeutics·2021
Same author

Evaluation of antiplasmodial properties in 15 selected traditional medicinal plants from India.

Journal of integrative medicine·2019
Same author

Oral immunization with LacVax® OmpA induces protective immune response against Shigella flexneri 2a ATCC 12022 in a murine model.

Vaccine·2019
Same author

In vivo delivery of pPERDBY to BALB/c mice by LacVax<sup>®</sup> DNA-I and comparison of elicited immune response with conventional immunization methods.

Gene therapy·2018
Same journal

Gene therapy: Have the risks associated with viral vectors been solved?

Current opinion in molecular therapeutics·2011
Same journal

Teduglutide, a glucagon-like peptide-2 analog for the treatment of gastrointestinal diseases, including short bowel syndrome.

Current opinion in molecular therapeutics·2010
Same journal

Dulaglutide, a long-acting GLP-1 analog fused with an Fc antibody fragment for the potential treatment of type 2 diabetes.

Current opinion in molecular therapeutics·2010
Same journal

Corticorelin, a synthetic human corticotropin-releasing factor analog, for the treatment of peritumoral brain edema.

Current opinion in molecular therapeutics·2010
Same journal

Mogamulizumab, a humanized mAb against C-C chemokine receptor 4 for the potential treatment of T-cell lymphomas and asthma.

Current opinion in molecular therapeutics·2010
Same journal

Gevokizumab, an anti-IL-1β mAb for the potential treatment of type 1 and 2 diabetes, rheumatoid arthritis and cardiovascular disease.

Current opinion in molecular therapeutics·2010
See all related articles

Related Experiment Video

Updated: Jun 17, 2026

Detection of Copy Number Alterations Using Single Cell Sequencing
09:45

Detection of Copy Number Alterations Using Single Cell Sequencing

Published on: February 17, 2017

Pharmacogenetics: technologies to detect copy number variations.

Dipali Dhawan1, Harish Padh

  • 1BV Patel Pharmaceutical Education and Research Development (PERD) Centre, Thaltej-Gandhinagar Highway, Thaltej, Ahmedabad, 380 054, Gujarat, India.

Current Opinion in Molecular Therapeutics
|January 15, 2010
PubMed
Summary
This summary is machine-generated.

Copy number variations (CNVs) are key structural variations in the human genome impacting drug response. This review details CNV detection methods and their clinical pharmacogenetics applications.

More Related Videos

Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants
09:16

Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants

Published on: February 21, 2015

Serum and Plasma Copy Number Detection Using Real-time PCR
09:21

Serum and Plasma Copy Number Detection Using Real-time PCR

Published on: December 15, 2017

Related Experiment Videos

Last Updated: Jun 17, 2026

Detection of Copy Number Alterations Using Single Cell Sequencing
09:45

Detection of Copy Number Alterations Using Single Cell Sequencing

Published on: February 17, 2017

Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants
09:16

Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants

Published on: February 21, 2015

Serum and Plasma Copy Number Detection Using Real-time PCR
09:21

Serum and Plasma Copy Number Detection Using Real-time PCR

Published on: December 15, 2017

Area of Science:

  • Genomics
  • Pharmacogenetics
  • Molecular Biology

Background:

  • The human genome contains structural variations, including copy number variations (CNVs), tandem repeats, and single nucleotide polymorphisms (SNPs).
  • CNVs, resulting from genomic alterations like insertions, deletions, and duplications, affect 10-12% of the genome, influencing more nucleotides than SNPs.
  • These variations have significant implications for drug metabolism and disease susceptibility.

Purpose of the Study:

  • To review current techniques for detecting copy number variations (CNVs).
  • To highlight the clinical applications of CNVs in pharmacogenetics.
  • To emphasize the importance of understanding CNVs' impact on drug efficacy and toxicity.

Main Methods:

  • Review of established CNV detection methodologies.
  • Discussion of hybridization-based approaches (e.g., arrays).
  • Evaluation of PCR amplification, FRET, and sequencing techniques for CNV identification.

Main Results:

  • CNV detection methods can identify both microscopic (≥3 Mb) and submicroscopic (1 kb–3 Mb) structural variations.
  • CNVs play a crucial role in determining individual responses to therapeutic agents.
  • Understanding gene copy number variations is essential for personalized medicine.

Conclusions:

  • Effective detection of CNVs is critical for advancing clinical pharmacogenetics.
  • Establishing the impact of CNVs on pharmacokinetics and pharmacodynamics is necessary for safe and effective drug use.
  • This review provides insights into CNV detection techniques and their clinical relevance.