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Related Concept Videos

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...
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...
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
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...
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...

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Related Experiment Video

Updated: Jun 9, 2026

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

Infinium Assay for Large-scale SNP Genotyping Applications

Published on: November 19, 2013

Warfarin genotyping using three different platforms.

Joel A Lefferts, Mary C Schwab, Uday B Dandamudi

    American Journal of Translational Research
    |August 25, 2010
    PubMed
    Summary
    This summary is machine-generated.

    Genetic testing for CYP2C9 and VKORC1 gene variants can guide warfarin dosing. Pharmacogenetic testing offers clinical utility, with multiple genotyping assays available for laboratory use.

    Keywords:
    CYP2C9InvaderTaqMan PCRVKORC1Verigenegenotyping methodswarfarin

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    Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER
    14:06

    Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER

    Published on: June 23, 2012

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    Last Updated: Jun 9, 2026

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

    Infinium Assay for Large-scale SNP Genotyping Applications

    Published on: November 19, 2013

    Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER
    14:06

    Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER

    Published on: June 23, 2012

    Area of Science:

    • Pharmacogenomics
    • Clinical Chemistry
    • Molecular Diagnostics

    Background:

    • Genetic variations in CYP2C9 and VKORC1 influence warfarin metabolism and efficacy.
    • Pharmacogenetic testing can personalize warfarin dosing, but clinical adoption has been gradual.
    • Existing literature supports the utility of pharmacogenetics in warfarin therapy.

    Purpose of the Study:

    • To evaluate and compare three distinct genotyping assays (Invader, Verigene, TaqMan) for detecting key warfarin-related genetic variants.
    • To assess the suitability of these assays as clinical diagnostic tests for guiding warfarin dosage.
    • To inform molecular diagnostic laboratories on assay selection based on specific needs.

    Main Methods:

    • Evaluation of three commercially available genotyping assays: Invader, Verigene, and TaqMan.
    • Testing of identical patient samples across all three assays to detect CYP2C9*2, CYP2C9*3, and VKORC1 polymorphisms (rs9923231 or rs11739093).
    • Comparison of assay performance based on genotype concordance, turnaround time, FDA approval status, DNA input requirements, and logistical factors.

    Main Results:

    • All three evaluated assays demonstrated identical genotype reporting for the targeted warfarin-associated genetic variants.
    • Significant differences were observed among the assays regarding turnaround time, FDA approval, DNA input requirements, and other operational considerations.
    • These logistical variations suggest that different assays may be optimal for distinct laboratory settings and testing volumes.

    Conclusions:

    • The Invader, Verigene, and TaqMan genotyping assays accurately detect clinically relevant warfarin pharmacogenetic variants.
    • Assay selection for clinical implementation should consider factors beyond genotype concordance, including turnaround time and laboratory-specific logistical constraints.
    • Pharmacogenetic testing for warfarin dosing is supported by evidence, and the choice of genotyping method can be tailored to laboratory needs.