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High-throughput methods for detection of genetic variation.

V N Kristensen¹, D Kelefiotis, T Kristensen

¹Institute for Cancer Research, Norwegian Radium Hospital, Montebello 0310, Oslo, Norway. nedelcheva.vessela@dnr.uio.no

|March 10, 2001

Summary

This review explores methods for identifying and visualizing genetic variations, crucial for understanding disease susceptibility and treatment response. It categorizes techniques like enzymatic, electrophoretic, solid-phase, chromatographic, physical, and in silico approaches.

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Area of Science:

Genetics and Genomics
Molecular Biology
Bioinformatics

Background:

Human genetic variation influences disease susceptibility and drug response.
Accurate identification of genetic alterations is essential for personalized medicine.

Purpose of the Study:

To systematically review and categorize diverse methods for identifying and visualizing genetic variations.
To provide an overview of established and emerging techniques in allele discrimination.

Main Methods:

Enzymatic approaches (e.g., restriction enzymes, polymerases, ligases).
Electrophoretic methods (e.g., DNA sequencing, heteroduplex analysis).
Solid-phase determination (e.g., oligonucleotide arrays, DNA sensors).
Chromatographic (DHPLC), physical (mass spectrometry, fluorescence), and in silico methods (EST analysis).

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Main Results:

Categorization of allele discrimination techniques into six main groups.
Description of frequently used methods and their instrumental settings.
Discussion of less common but promising techniques for genetic variation analysis.

Conclusions:

A comprehensive overview of genetic variation identification and visualization techniques is presented.
The review aids researchers in selecting appropriate methods for their specific genetic studies.
Understanding these methods is key to advancing personalized medicine and disease research.