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Related Concept Videos

Pharmacogenetics and Pharmacogenomics: Overview01:29

Pharmacogenetics and Pharmacogenomics: Overview

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

Pharmacogenomics: Identification of New Drug Targets

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

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

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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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Pharmacogenetics of Drug Metabolism: Overview01:27

Pharmacogenetics of Drug Metabolism: Overview

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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...
150
Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

113
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...
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Genome-wide Association Studies-GWAS01:11

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Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
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Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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PGMD: a comprehensive manually curated pharmacogenomic database.

A Kaplun1, J D Hogan1, F Schacherer1

  • 1BIOBASE GmbH, Halchtersche Strasse 33, Wolfenbüttel, Germany.

The Pharmacogenomics Journal
|May 6, 2015
PubMed
Summary
This summary is machine-generated.

The PharmacoGenomic Mutation Database (PGMD) is a manually curated resource detailing pharmacogenomic variants. It aids in annotating next-generation sequencing data by providing comprehensive variant information for drug development and personalized medicine.

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Area of Science:

  • Pharmacogenomics
  • Genomic Medicine
  • Bioinformatics

Background:

  • Pharmacogenomics is crucial for understanding drug response variability.
  • Existing databases may lack comprehensive, manually curated pharmacogenomic variant data.
  • The need for a centralized resource to support personalized medicine is growing.

Purpose of the Study:

  • To introduce the PharmacoGenomic Mutation Database (PGMD) as a comprehensive resource.
  • To highlight PGMD's manual curation process and data sources.
  • To detail the scope and utility of PGMD for research and clinical applications.

Main Methods:

  • Manual curation of data from peer-reviewed literature and regulatory drug labels (FDA, EMA).
  • Systematic capture of variant details: genomic location, sequence changes, phenotype, drugs, patient data, study design, and statistical significance.
  • Annotation of variants into functional categories based on pharmacokinetic, pharmacodynamic, efficacy, or clinical outcome impact.

Main Results:

  • The current PGMD release contains over 117,000 unique pharmacogenomic observations.
  • Data covers 24 disease superclasses and nearly 1400 drugs.
  • Over 2800 genes are associated with pharmacogenomic variants, including intergenic regions.
  • PGMD includes diverse variant types: SNPs, indels, VNTRs, CNVs, and structural variations.

Conclusions:

  • PGMD provides a valuable, manually curated resource for pharmacogenomic research.
  • The database facilitates the annotation of next-generation sequencing data.
  • PGMD supports the advancement of personalized medicine by detailing drug-gene-disease interactions.