Generations of Sequencing Technologies

Department of Gene Technology, Royal Institute of Technology (KTH), AlbaNova University Center, Roslagstullsbacken 21, SE-10691 Stockholm, Sweden.
Genomics (Impact Factor: 2.28). 12/2008; 93(2):105-11. DOI: 10.1016/j.ygeno.2008.10.003
Source: PubMed


Advancements in the field of DNA sequencing are changing the scientific horizon and promising an era of personalized medicine for elevated human health. Although platforms are improving at the rate of Moore's Law, thereby reducing the sequencing costs by a factor of two or three each year, we find ourselves at a point in history where individual genomes are starting to appear but where the cost is still too high for routine sequencing of whole genomes. These needs will be met by miniaturized and parallelized platforms that allow a lower sample and template consumption thereby increasing speed and reducing costs. Current massively parallel, state-of-the-art systems are providing significantly improved throughput over Sanger systems and future single-molecule approaches will continue the exponential improvements in the field.

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    • "been a sharp increase in the number of genetic association studies being carried out, especially in the form of genome-wide association studies (GWAS, statistics available at As whole genome sequencing (WGS) is prohibitively expensive for large genetic association studies [4] [5] [6], whole exome sequencing (WES) has emerged as the attractive alternative, where only the protein coding region of the genome (i.e., exome) is targeted and sequenced [7]. The decision to carry out WES over WGS is not solely influenced by the cost which currently stands at one-third in comparison [8], but also by the fact that most of the known Mendelian disorders (∼85%) are caused by mutations in the exome [9]; and reliably interpreting variation outside of the exome is still challenging as there is little consensus on interpreting their functional effects (even with ENCODE data [10] and noncoding variant effect prediction tools such as CADD [11], FATHMM-MKL [12], and GWAVA [13]). "
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    • "The latter sequencing technologies are referred to as the next-generation sequencing (NGS) technologies . Currently, the available commercial NGS platforms include GA, MiSeq, and HiSeq from Illumina [1], SOLiD and Ion Torrent from Life Technologies [2], RS system from Pacific Bioscience, and Heliscope from Helicos Biosciences [3] [4] [5] [6] [7]. Next generation sequencing machines can sequence the whole human genome in a few days, and this capability has inspired a flood of new projects that are aimed at sequencing large kinds of animals and plants [8] [9]. "
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