ABSTRACT
The tremendous recent advances in genetic studies owe a great deal to the completion of human genome project in 2003 and the availability of next-generation sequencing (NGS). Previously, Sanger sequencing using fluorescently labeled dideoxy chain-terminating nucleotide was widely used for many genetic analyses. NGS has become more popular in clinical applications such as smaller or targeted panel analysis in cancer patients for identifying driver mutations or drug target mutations for companion diagnostics. There are four different NGS platforms: sequencing by synthesis cyclic reversible termination, sequencing by synthesis single nucleotide addition, sequencing by ligation, and single molecule real-time long read sequencing (or third-generation sequencing). Illumina has the biggest NGS market share (more than 70% [27]) worldwide. Since Illumina acquired Solexa in 2007, Illumina has led NGS research and applications. One of the biggest issues in using NGS is low accuracy compared to other technologies like Sanger sequencing.
