ABSTRACT

This book is devoted to understanding the bioinformatics issues related to deoxyribonucleic acid (DNA) sequencing. This introduction chapter briefly reviews DNA, ribonucleic acid (RNA) and protein. The basic building block of DNA is the DNA nucleotide. There are 4 types of DNA nucleotides: adenine, guanine, cytosine and thymine. Through the interaction among DNA, RNA and protein, our genome dictates which cells should grow, when cells should die, how cells should be structured, and creates various body parts. The chapter describes various sequencing technologies, such as first-generation sequencing, second-generation sequencing, and third-generation sequencing. It illustrates the sequencing technique of Oxford nanopore and provides a comparison of the three generations of sequencing. Finally, the chapter describes the applications of sequencing technologies, including genome assembly, genome variations finding, reconstructing the transcriptome, and decoding the transcriptional regulation. Sequencing has been applied to many other research areas, including metagenomics and 3D modeling of the genome.