The evolution of high-throughput sequencing technologies: From sanger to single-molecule sequencing

Abstract

High-throughput sequencing technologies have been advancing rapidly over the last few years, transitioning from the first-generation Sanger sequencing to fourth generation. Each of the new generation sequencing technologies is characterized by new features. In contrast to Sanger sequencing, next-generation sequencing technologies (including the bench-top platforms) are characterized by their ability to perform massively parallel sequencing of up to hundred millions of sequence reads. This has significantly increased the throughput of the sequencing data by several orders of magnitude compared to Sanger sequencing; more importantly, it has also reduced the cost of sequencing quite substantially. These advances have made sequencing of the entire human diploid genome and other large-scale omics studies both technically feasible and affordable, which was unachievable using Sanger sequencing. In addition, the sequencing of an entire human genome can be completed within weeks or days, which was unimaginable only a few years ago when the Human Genome Project was completed. This chapter reviews the technologies of these high-throughput sequencing platforms and discusses the evolution of these technologies over the past decade.