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Next-generation Sequencing

Next-generation Sequencing

The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features.

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Updated: Jun 20, 2026

Infinium Assay for Large-scale SNP Genotyping Applications

Infinium Assay for Large-scale SNP Genotyping Applications

Published on: November 19, 2013

High-throughput methods for SNP genotyping.

Chunming Ding¹, Shengnan Jin

¹Stanley Ho Centre for Emerging Infectious Diseases and Li Ka Shing Institute of Health Science, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, New Territories, Hong Kong Special Administrative Region, Hong Kong, China.

Methods in Molecular Biology (Clifton, N.J.)

|September 22, 2009

Summary

This summary is machine-generated.

Single nucleotide polymorphisms (SNPs) are valuable genetic markers for complex diseases due to their abundance and the availability of diverse genotyping platforms. This overview compares these platforms to guide their optimal application.

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Area of Science:

Genetics and Genomics
Biotechnology
Bioinformatics

Background:

Single nucleotide polymorphisms (SNPs) are crucial genetic markers for identifying genes linked to complex diseases.
SNPs are abundant in the human genome, occurring approximately every 500-1,000 base pairs.
Numerous commercial platforms exist for SNP genotyping, varying in technology and application.

Purpose of the Study:

To provide an overview of available SNP genotyping platforms.
To explain the underlying technologies of each platform.
To identify optimal application scenarios for different platforms through cross-comparison.

Main Methods:

Review and cross-comparison of various SNP genotyping technologies.
Explanation of the technical principles behind different platforms.
Analysis of platform characteristics: SNP selection, reaction chemistry, signal detection, throughput, cost, and assay flexibility.

Main Results:

SNP genotyping platforms differ significantly in their technical specifications and capabilities.
Each platform is suited for specific research needs based on factors like cost, throughput, and flexibility.
A comparative analysis highlights the strengths and weaknesses of various approaches.

Conclusions:

Understanding the diverse SNP genotyping platforms is essential for efficient genetic research.
Selecting the appropriate platform based on specific research goals maximizes the utility of SNP data.
This chapter serves as a guide to navigating the landscape of SNP genotyping technologies.