Emerging DNA Sequencing Technologies

Shashikant Kulkarni, John Pfeifer

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


The DNA sequencing platforms that are currently in widespread use to perform massively parallel sequencing, which as a group are currently referred to as next-generation sequencing (NGS) platforms, have enabled the genomic revolution in science and medicine. However, current NGS platforms do not represent the final stage of development of DNA sequencing technologies. A number of so-called third-generation approaches, which are already available commercially, make it possible to sequence individual DNA molecules without the need for library amplification steps. These approaches offer a number of advantages over current NGS methods including avoidance of the artifactual DNA mutations and strand biases introduced by even limited cycles of PCR; higher throughput and faster turnaround times, longer read lengths (by some platforms) that enhance de novo contig and genome assembly; higher consensus accuracy; and analysis of smaller quantities of nucleic acids which is a clear advantage in clinical settings. However, the third-generation approaches are themselves transitional to fourth-generation techniques that, while largely still in developmental phases, rely on entirely different principles of chemistry and physics to produce DNA sequence. While these fourth-generation technologies are years away from widespread clinical use, they provide a glimpse into the ever more sophisticated utilization of synthetic materials and advanced electronics that will continue to make DNA sequence analysis even faster and less costly.

Original languageEnglish
Title of host publicationClinical Genomics
PublisherElsevier Inc.
Number of pages8
ISBN (Electronic)9780124051737
ISBN (Print)9780124047488
StatePublished - Jan 1 2015


  • Fourth-generation sequencing
  • In situ sequencing
  • Nanopore sequencing
  • SMRT sequencing
  • TSMS sequencing
  • Third-generation sequencing


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