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Comparing Copy Number Variations and SNPs

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Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
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Related Experiment Video

Updated: Jul 10, 2026

Infinium Assay for Large-scale SNP Genotyping Applications

Infinium Assay for Large-scale SNP Genotyping Applications

Published on: November 19, 2013

Effective two-color SNP typing based on photoligation.

Takehiro Ami¹, Kenzo Fujimoto

¹School of Materials Science, Japan Advanced Institute of Science and Technology, 1-1 Asahidai, Nomi, Ishikawa 923-1292, Japan.

Nucleic Acids Symposium Series (2004)

|November 22, 2007

Summary

This study introduces a new method using 5-carboxyvinyl-2'-deoxyuridine for quick nucleic acid sequence differentiation. The technique enables simultaneous two-color observation, improving single nucleotide polymorphism (SNP) typing in heterozygous samples.

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Area of Science:

Molecular Biology
Genetics
Biochemistry

Background:

Accurate nucleic acid sequence differentiation is crucial for genetic analysis.
Current methods can be time-consuming and lack multi-color capabilities.
Single nucleotide polymorphism (SNP) typing requires precise sequence identification.

Purpose of the Study:

To develop a rapid method for differentiating nucleic acid sequences.
To enable simultaneous multi-color observation for enhanced analysis.
To facilitate efficient SNP typing, particularly in heterozygous samples.

Main Methods:

Utilized 5-carboxyvinyl-2 -deoxyuridine for nucleic acid labeling.
Developed a protocol for rapid sequence differentiation.
Implemented a system for simultaneous two-color fluorescence detection.

Main Results:

Achieved rapid differentiation of nucleic acid sequences.
Demonstrated successful simultaneous observation of two distinct colors.
Successfully performed SNP typing on a heterozygous sample with high accuracy.

Conclusions:

The developed method offers a fast and effective approach for nucleic acid sequence analysis.
Simultaneous two-color detection enhances the capabilities of sequence differentiation.
This technique provides a valuable tool for SNP typing and genetic research.