Chapter 7 - High throughput technology

Abstract

High-throughput sequencing technologies (HTS) are now indispensable for genomics, transcriptomics, proteomics, metabolomics, and epigenomics research. While Sanger sequencing has been the standard method for deciphering sequence data, HTS may sequence multiple DNA molecules simultaneously, allowing hundreds of millions of nucleotide molecules to be sequenced in a single run. Because of this benefit, HTS can be utilized to generate massive data sets, which in turn yield a deeper understanding of the cellular genomic and transcriptomic fingerprints of numerous diseases and developmental conditions. Since the introduction of the chromosomal walking technique at the beginning of the Human Genome Project, bioinformatics evaluation of DNA sequencing has advanced substantially. Now the novel variations and other mutations that may underpin many heritable diseases can be found by using whole exome sequencing inside HTS technologies; RNA sequencing (RNA-seq) can be used to study changes in the transcriptome; and ChIP-seq can be used to find epigenetic modifications. By exponentially boosting the throughput of their respective technologies, these commercially accessible sequencing platforms broaden the scope of sequencing. This chapter will cover the fundamentals of sequencing methods and the most important sequencing platforms currently available.