Genotyping Technologies

doi:10.1017/CBO9781139051194.004

2 - Genotyping Technologies

from I - Critical Concepts

Published online by Cambridge University Press: 05 June 2012

Cristi R. King and

Edited by

David Flockhart and

Russ B. Altman: Affiliation:
Stanford University, California
David Flockhart: Affiliation:
Indiana University
David B. Goldstein: Affiliation:
Duke University, North Carolina

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Summary

With the release of the Human Genome Mapping Project data (1) and the subsequent International HapMap Project (2), a wealth of genotype information is now publically available to researchers. Pharmacogenomics can utilize this information to its advantage by screening patient samples for known functional or tagging polymorphisms and deriving associations with drug outcome and toxicity. In addition, where no known functional polymorphisms have been identified in genes involved in drug pathways, technologies have emerged to perform whole-genome screens to find novel genome regions for further study.

Often considered the “gold standard” of genotyping, Sanger sequencing performed on the same DNA region in multiple individuals (resequencing) can be used to identify both new and previously reported polymorphisms. However, this process is not cost-effective, and analysis time can be slow. Consequently, it is often used as a quality-control step to confirm genotypes reported through the various technologies discussed later in this chapter.

Type: Chapter
Information: Principles of Pharmacogenetics and Pharmacogenomics , pp. 12 - 20

DOI: https://doi.org/10.1017/CBO9781139051194.004 [Opens in a new window]

Publisher: Cambridge University Press

Print publication year: 2012

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