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13:33
Infinium Assay for Large-scale SNP Genotyping Applications
Published on: November 19, 2013
Single-nucleotide polymorphisms, haplotypes, and their relevance to pharmacogenetics
1Genaissance Pharmaceuticals, Inc, New Haven, Connecticut 06511, USA. c.stephens@genaissance.com
Molecular Diagnosis : a Journal Devoted to the Understanding of Human Disease Through the Clinical Application of Molecular Biology
|February 15, 2000
Summary
Human genetic variation impacts medicine, driving personalized medicine through pharmacogenetics. Understanding population genetics is key to optimizing drug discovery and development for varied patient responses.
Area of Science:
- Human Genetics
- Pharmacology
- Personalized Medicine
Background:
- Human genetic variation significantly impacts modern medicine.
- Identification of genes for monogenic and complex diseases is advancing.
- Pharmacogenetics is crucial for understanding differential drug responses.
Purpose of the Study:
- To explore genes involved in differential pharmacological responses.
- To establish the role of genetics in personalized medicine.
- To provide context for using genetic variation in pharmacogenetics.
Main Methods:
- Review of human genetic variation.
- Analysis of population genetic and evolutionary processes.
- Focus on single-nucleotide polymorphisms and haplotypes.
Main Results:
- Human genetic variation has enabled gene identification for various disorders.
- Pharmacogenetics is central to personalized medicine and drug discovery.
- Population genetic understanding is necessary for pharmacogenetic applications.
Conclusions:
- Integrating population genetics is essential for realizing pharmacogenetics potential.
- Guidelines for using genetic variation (SNPs, haplotypes) in pharmacogenetics are introduced.
- This approach will advance targeted drug discovery and development.
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