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Related Concept Videos

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,...

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Related Experiment Video

Updated: Jun 20, 2026

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

Infinium Assay for Large-scale SNP Genotyping Applications

Published on: November 19, 2013

The TaqMan method for SNP genotyping.

Gong-Qing Shen1, Kalil G Abdullah, Qing Kenneth Wang

  • 1Department of Molecular Cardiology, Lerner Research Institute, Cleveland Clinic, Cleveland, OH, USA.

Methods in Molecular Biology (Clifton, N.J.)
|September 22, 2009
PubMed
Summary
This summary is machine-generated.

Single nucleotide polymorphisms (SNPs) are key to understanding complex diseases. The TaqMan assay offers an accurate, efficient, and cost-effective method for genotyping SNPs in large populations.

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Area of Science:

  • Genetics
  • Molecular Biology
  • Genomics

Background:

  • Single nucleotide polymorphisms (SNPs) are common DNA variations crucial for genetic studies of complex diseases.
  • Genome-wide association studies and other analyses rely heavily on accurate SNP genotyping.
  • Choosing the right genotyping method depends on the scale of the project (number of SNPs and samples).

Purpose of the Study:

  • To detail the procedures for performing TaqMan SNP genotyping assays.
  • To provide guidance on selecting appropriate SNP genotyping methods based on project parameters.
  • To highlight best practices for DNA sample preparation and assay execution.

Main Methods:

  • The study focuses on the TaqMan assay, a preferred method for projects with a small number of SNPs (n) and a large number of DNA samples (m).
  • Detailed protocols cover high-quality DNA sample preparation and the operating procedure for TaqMan assays.
  • Technical issues and cautionary notes relevant to SNP genotyping are discussed.

Main Results:

  • The TaqMan assay is presented as a highly accurate, precise, time-efficient, and cost-effective technology for large-scale SNP genotyping.
  • The document provides a comprehensive guide to implementing the TaqMan assay effectively.
  • Considerations for selecting between high-throughput array-based methods (e.g., Affymetrix, Illumina) and the TaqMan assay are outlined based on project scope.

Conclusions:

  • The TaqMan assay is a robust and recommended method for SNP genotyping in large populations when the number of SNPs is limited.
  • Proper DNA sample preparation and adherence to detailed protocols are essential for successful SNP genotyping.
  • This work serves as a practical resource for researchers conducting genetic association studies.