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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: Jul 3, 2026

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

Infinium Assay for Large-scale SNP Genotyping Applications

Published on: November 19, 2013

High-throughput SNP genotyping.

Suzanne Jenkins1, Neil Gibson

  • 1R&D Genetics, AstraZeneca, Mereside, Alderley Park, Macclesfield, Cheshire SK10 4TG, UK. suzanne.jenkins@astrazeneca.com

Comparative and Functional Genomics
|July 17, 2008
PubMed
Summary
This summary is machine-generated.

High-throughput genotyping platforms are crucial for advancing complex disease genetics and pharmacogenetics research. Future platforms require higher throughput and lower costs, utilizing multiplex reactions and solid-phase detection for efficiency.

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Area of Science:

  • Genomics
  • Pharmacogenetics
  • Biotechnology

Background:

  • Whole genome approaches using single nucleotide polymorphism (SNP) markers are transforming complex disease genetics and pharmacogenetics.
  • High-throughput SNP genotyping platforms are essential for this research.
  • Current platforms achieve >100,000 genotypes/day at >99% accuracy and $0.20-$0.30/genotype.

Purpose of the Study:

  • To outline the requirements for next-generation high-throughput genotyping platforms.
  • To identify key technological advancements needed to meet future demands in genetic research.
  • To predict the direction of future high-throughput genotyping technology development.

Main Methods:

  • Review of current SNP genotyping technologies and their performance metrics (throughput, accuracy, cost).
  • Analysis of the projected needs for large-scale genetic studies.
  • Identification of emerging technologies and strategies for enhanced genotyping efficiency.

Main Results:

  • Existing platforms exceed 100,000 genotypes/day with >99% accuracy.
  • Future platforms must achieve ~1 million genotypes/day at a cost of a few cents per genotype.
  • Next-generation platforms will likely utilize large-scale multiplex reactions and solid-phase assay detection.

Conclusions:

  • Significant advancements in throughput, cost-efficiency, and DNA template minimization are required for future genotyping platforms.
  • Large-scale multiplexing and solid-phase detection are predicted to be key features of next-generation systems.
  • These advancements will further accelerate complex disease genetics and pharmacogenetics research.