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Updated: Jul 26, 2026
13:33
Infinium Assay for Large-scale SNP Genotyping Applications
Published on: November 19, 2013
Methods for genotyping single nucleotide polymorphisms.
1Washington University School of Medicine, St. Louis, Missouri 63110, USA. kwok@genetics.wustl.edu
Annual Review of Genomics and Human Genetics
|November 10, 2001
Summary
The Human Genome Project identified millions of DNA variants, mostly single nucleotide polymorphisms (SNPs). Current SNP genotyping methods are reviewed, highlighting challenges and future directions for genetic studies of complex diseases.
Area of Science:
- Genomics
- Molecular Biology
- Human Genetics
Background:
- The Human Genome Project has revealed millions of DNA sequence variants, predominantly single nucleotide polymorphisms (SNPs).
- SNPs are crucial genetic markers for investigating the genetic underpinnings of complex diseases using population-based studies.
- Large-scale genotyping of numerous individuals with a high density of SNP markers is essential for these studies.
Purpose of the Study:
- To review the current state of single nucleotide polymorphism (SNP) genotyping technologies.
- To discuss the mechanisms, formats, and detection methods employed in SNP genotyping.
- To identify current challenges and future prospects in SNP genotyping for genetic research.
Main Methods:
- Review of existing SNP genotyping methodologies.
- Discussion of allelic discrimination mechanisms.
- Analysis of various reaction formats and detection modalities.
Main Results:
- A variety of SNP genotyping methods are currently available, catering to diverse study designs.
- No single method is universally optimal, but several effective options exist.
- Key challenges include accelerating assay development, reducing costs, and enabling parallel processing of multiple assays.
Conclusions:
- Effective SNP genotyping methods are available to support genetic studies of complex diseases.
- Future advancements aim to enhance speed, reduce costs, and increase throughput for SNP genotyping.
- The rapid development of new technologies suggests an ideal SNP genotyping method may emerge soon.
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