Next-generation sequencing and its applications in molecular diagnostics

Expert Rev Mol Diagn. 2011 Apr;11(3):333-43. doi: 10.1586/erm.11.3.


DNA sequencing is a powerful approach for decoding a number of human diseases, including cancers. The advent of next-generation sequencing (NGS) technologies has reduced sequencing cost by orders of magnitude and significantly increased the throughput, making whole-genome sequencing a possible way for obtaining global genomic information about patients on whom clinical actions may be taken. However, the benefits offered by NGS technologies come with a number of challenges that must be adequately addressed before they can be transformed from research tools to routine clinical practices. This article provides an overview of four commonly used NGS technologies from Roche Applied Science//454 Life Sciences, Illumina, Life Technologies and Helicos Biosciences. The challenges in the analysis of NGS data and their potential applications in clinical diagnosis are also discussed.

Publication types

  • Review

MeSH terms

  • Computational Biology
  • Gene Expression Profiling
  • Genetic Markers
  • Genetic Techniques
  • High-Throughput Nucleotide Sequencing / methods*
  • Humans
  • Molecular Diagnostic Techniques / methods*
  • Molecular Diagnostic Techniques / trends
  • Neoplasms / genetics
  • Sequence Analysis, DNA / methods*
  • Sequence Analysis, RNA


  • Genetic Markers