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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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Infinium Assay for Large-scale SNP Genotyping Applications
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Genotyping technologies for all.

Jiannis Ragoussis1

  • 1Genomics Laboratory, Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford, UK OX3 7BN.

Drug Discovery Today. Technologies
|July 2, 2014
PubMed
Summary

The International HapMap project provides millions of single nucleotide polymorphisms (SNPs) for genetic studies. This review discusses eight genotyping assays, comparing their costs, strengths, and weaknesses for various research applications.

Area of Science:

  • Genetics and Genomics
  • Pharmacogenetics
  • Biotechnology

Background:

  • The International HapMap project has made millions of single nucleotide polymorphisms (SNPs) publicly available.
  • This resource enables large-scale genetic and pharmacogenetic association studies, including whole-genome and candidate gene approaches.
  • Advancements have significantly reduced the cost per genotype, making these studies more accessible.

Purpose of the Study:

  • To present and evaluate eight commonly used commercial genotyping assays.
  • To discuss the strengths, weaknesses, and suitability of each assay for different study types.
  • To provide insights into the associated costs of these genotyping technologies.

Main Methods:

  • Review and brief presentation of eight commercially available genotyping assays: TaqMan, SNPstream, SNPlex, hME/iPLEX, MIP, GenChip, Goldengate, and Infinium I and II.

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  • Comparative analysis of assay performance characteristics.
  • Discussion of cost-effectiveness and application-specific suitability.

    • Main Results:

    • Each of the eight discussed genotyping assays possesses unique strengths and limitations.
    • Assay suitability varies depending on the specific requirements of genetic or pharmacogenetic studies.
    • Cost per genotype is a critical factor influenced by assay choice and study scale.

    Conclusions:

    • Selection of an appropriate genotyping assay is crucial for the success and cost-efficiency of genetic and pharmacogenetic studies.
    • Understanding the trade-offs between different platforms enables researchers to optimize their study design.
    • The availability of diverse, cost-effective genotyping technologies facilitates broad application of SNP data.