Single nucleotide polymorphisms (SNPs)

Jyotsna Batra, Srilakshmi Srinivasan, Judith Clements*

*Corresponding author for this work

Research output: Chapter in Book/Report/Conference proceedingChapterResearchpeer-review

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.
Original languageEnglish
Title of host publicationMolecular Testing in Cancer
PublisherSpringer
Pages55-80
Number of pages26
ISBN (Electronic)9781489980502
ISBN (Print)9781489980496
DOIs
Publication statusPublished - 1 Oct 2014
Externally publishedYes

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