Overview of Technical Aspects and Chemistries of Next-Generation Sequencing

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

7 Scopus citations

Abstract

Clinical genomic testing has been made possible by the development of "next-generation" sequencing (NGS) technologies that allow large quantities of nucleic acid sequence to be obtained in a clinically meaningful time frame. This chapter reviews the sequencing platforms that are currently in most common use, including Illumina, Ion Torrent, SOLiD, and Roche 454. Sanger sequencing is discussed as a "first-generation" technology that retains an important place in clinical genomics for orthogonal validation of NGS findings and for coverage of areas not amenable to NGS.

Original languageEnglish
Title of host publicationClinical Genomics
PublisherElsevier Inc.
Pages3-19
Number of pages17
ISBN (Electronic)9780124051737
ISBN (Print)9780124047488
DOIs
StatePublished - Jan 1 2015

Keywords

  • Genomics
  • Massively parallel sequencing
  • Medical laboratory technologies

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