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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

Accessing and selecting genetic markers from available resources.

Christopher G Bell¹

¹Medical Genomics, UCL Cancer Institute, University College London, London, UK. christopher.bell@ucl.ac.uk

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

|July 23, 2011

Summary

This summary is machine-generated.

Genetic markers evolved through RFLP, microsatellite, and SNP eras. This review focuses on single nucleotide polymorphisms (SNPs) and their associated online databases for genetic research.

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Area of Science:

Molecular genetics
Genomics
Bioinformatics

Background:

The evolution of genetic markers has shaped molecular genetics.
Key historical phases include Restriction Fragment Length Polymorphism (RFLP), microsatellites, and Single Nucleotide Polymorphisms (SNPs).

Purpose of the Study:

To provide a historical overview of genetic marker development.
To focus on the current significance and application of SNPs.
To introduce relevant online databases for genetic information retrieval.

Main Methods:

Historical review of genetic marker technologies.
Focus on Single Nucleotide Polymorphisms (SNPs) as the primary tool.
Exploration of online databases and bioinformatics portals.

Main Results:

Genetic marker technology has progressed through distinct eras: RFLP, microsatellite, and SNP.
SNPs are currently the predominant genetic marker used in molecular genetics.
Online databases serve as crucial repositories and access points for genetic data.

Conclusions:

Understanding the historical progression of genetic markers, particularly SNPs, is essential for modern molecular genetics.
Online databases are vital resources for accessing and analyzing genetic information.
Systematic searches of gene or disease-based information are facilitated by these resources.