Key Principles and Clinical Applications of "Next-Generation" DNA Sequencing

Department of Biochemistry and Center of Excellence in Bioinformatics and Life Sciences, State University of New York at Buffalo, 701 Elicott St., Buffalo, NY 14203, USA.
Cancer Prevention Research (Impact Factor: 4.44). 05/2012; 5(7):887-900. DOI: 10.1158/1940-6207.CAPR-11-0432
Source: PubMed


Demand for fast, inexpensive, and accurate DNA sequencing data has led to the birth and dominance of a new generation of sequencing technologies. So-called "next-generation" sequencing technologies enable rapid generation of data by sequencing massive amounts of DNA in parallel using diverse methodologies which overcome the limitations of Sanger sequencing methods used to sequence the first human genome. Despite opening new frontiers of genomics research, the fundamental shift away from the Sanger sequencing that next-generation technologies has created has also left many unaware of the capabilities and applications of these new technologies, especially those in the clinical realm. Moreover, the brisk evolution of sequencing technologies has flooded the market with commercially available sequencing platforms, whose unique chemistries and diverse applications stand as another obstacle restricting the potential of next-generation sequencing. This review serves to provide a primer on next-generation sequencing technologies for clinical researchers and physician scientists. We provide an overview of the capabilities and clinical applications of DNA sequencing technologies to raise awareness among researchers about the power of these novel genomic tools. In addition, we discuss that key sequencing principles provide a comparison between existing and near-term technologies and outline key advantages and disadvantages between different sequencing platforms to help researchers choose an appropriate platform for their research interests.

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    • "Interpreting DNA sequences is a vital component of all biological research efforts(Rizzo and Buck, 2012)(Su et al., 2011)(Xuan et al., 2013). High throughput DNA sequencers or next-generation sequencing (NGS) platforms like Illumina have enabled researchers to generate sequence data at a rate, which outpaces Moore's law and is approximately doubling annually(Gullapalli et al., 2012). "
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    • "The mutation profile and genetic stability of attenuated vaccine viruses such as oral polio vaccine and influenza vaccines can also be tracked by deep sequencing (Bidzhieva et al., 2014; Neverov and Chumakov, 2010). As the cost of massively parallel DNA sequencing continues to fall (Loman et al., 2012; Metzker, 2010; Rizzo and Buck, 2012), the limitations imposed by data transfer and bioinformatics analyses become more significant requiring increasing computing power. Until the cost of sequencing and bioinformatics become so 0166-0934/© 2014 Elsevier B.V. All rights reserved. "
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    • "Sequencing the human genome was only a short time ago considered the “Mount Everest” of medical achievement. Today, sequencing an entire individual’s genome is widely available and can be performed in a day (rather than years) for thousands (rather than millions) of dollars.1 In a similar manner, technology surrounding preimplantation genetic screening (PGS) has advanced greatly in recent years. "
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