Authors: Su, Zhenqiang; Ning, Baitang; Fang, Hong; Hong, Huixiao; Perkins, Roger; Tong, Weida; Shi, Leming

Source: Expert Review of Molecular Diagnostics, Volume 11, Number 3, April 2011 , pp. 333-343(11)

Publisher: Expert Reviews

Abstract:

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.

Keywords: ChIP-Seq; massively parallel sequencing; molecular diagnostics; next-generation sequencing; RNA-Seq; single-nucleotide variant; transcriptome

Document Type: Research article

DOI: http://dx.doi.org/10.1586/erm.11.3

Affiliations: 1: 1Z-Tech, an ICF International Company at US FDA''s National Center for Toxicological Research, 3900 NCTR Road, Jefferson, AR 72079, USA

Publication date: 2011-04-01

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• Expert Review of Molecular Diagnostics provides expert reviews on molecular diagnostic technologies and applied pharmacogenomics in clinical medicine. Coverage includes molecular diagnostics, biomarkers, diagnostic technologies, microarrays and biochips, proteomics, pharmacogenomics, pharmacogenetics and personalized medicine.
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