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Single Nucleotide Polymorphisms (SNPs)

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Molecular Testing in Cancer

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Abstract

Single nucleotide polymorphisms (SNPs) have been suggested as a useful tool for dissecting various human complex disorders, classically at a small scale and recently at large genome-wide levels. The advent of new technologies, including chip-based genotyping as well as high-throughput next generation sequencing, has opened new avenues for SNPs to be used in clinical practice. In this chapter, we summarize the current use of SNPs mainly SNP-based arrays in various clinical applications as well as describe the classical and recent methods of SNP detection and genotyping currently being used in the research and clinical environments.

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  1. Translational Research Institute, Queensland University of Technology, 37 Kent Street, Woolloongabba, QLD, 4102, Australia

    Jyotsna Batra Ph.D., Srilakshmi Srinivasan Ph.D. & Judith Clements Ph.D.

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  1. Jyotsna Batra Ph.D.
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  2. Srilakshmi Srinivasan Ph.D.
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Correspondence to Judith Clements Ph.D. .

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  1. Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada

    George M. Yousef

  2. Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada

    Serge Jothy

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Batra, J., Srinivasan, S., Clements, J. (2014). Single Nucleotide Polymorphisms (SNPs). In: Yousef, G., Jothy, S. (eds) Molecular Testing in Cancer. Springer, New York, NY. https://doi.org/10.1007/978-1-4899-8050-2_5

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