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How can mate-pair sequencing be utilized for cancer patients?

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NGS utilizes the power of massively parallel sequencing to generate large numbers of sequences simultaneously. The first NGS platform (454) could generate 20 million base pairs of sequence from a… Click to show full abstract

NGS utilizes the power of massively parallel sequencing to generate large numbers of sequences simultaneously. The first NGS platform (454) could generate 20 million base pairs of sequence from a single run [1] which was several orders of magnitude greater than what could be obtained with Sanger sequencing using capillary electrophoresis [2]. Improvements on this platform resulted in increased sequence output so that eventually this platform could produce 500 Mbs of sequence data per run. This platform decreased the cost of sequencing a single human genome from several hundred million dollars to just one million dollars. The second NGS platform to be developed was from the company Illumina and initially it could produce 48 million short sequence reads for a total output of about 1 gigabase (Gb) [3]. This platform had much greater potential for significant improvements and over the next 10 years the output increased over three orders of magnitude. The current high output Illumina machines can generate over 1.5 billion independent sequence reads for a total output of 1.8 terrabases (Tb) per run. On these machines the cost for generating sufficient sequence data for whole genome sequencing (WGS) is now less than $1000. There are a number of other NGS platforms that are now commercially available utilizing different sequencing platforms including ones available from Ion Torrent [4], Pacific Biosciences [5], and Oxford Nanopore [6]. Each of these platforms offers different strengths and weaknesses, but none of these currently generate sufficient sequence for WGS.

Keywords: pair sequencing; output; platform; sequencing utilized; mate pair; sequence

Journal Title: Expert Review of Molecular Diagnostics
Year Published: 2017

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