ABSTRACT
LIN LIU, YINHU LI, SILIANG LI, NI HU, YIMIN HE, RAY PONG, DANNI LIN, LIHUA LU, and MAGGIE LAW
1.1 INTRODUCTION
(Deoxyribonucleic acid) DNA was demonstrated as the genetic material by Oswald Theodore Avery in 1944. Its double helical strand structure composed of four bases was determined by James D. Watson and Francis Crick in 1953, leading to the central dogma of molecular biology. In most cases, genomic DNA defined the species and individuals, which makes the DNA sequence fundamental to the research on the structures and functions of cells and the decoding of life mysteries [1]. DNA sequencing technologies could help biologists and health care providers in a broad range of applications such as molecular cloning, breeding, finding pathogenic genes, and comparative and evolution studies. DNA sequencing technologies ideally should be fast, accurate, easy-to-operate, and cheap. In the past thirty years, DNA sequencing technologies and applications have undergone tremendous development and act as the engine of the genome era which is characterized by vast amount of genome data and subsequently broad range of research areas and multiple applications. It is necessary to look
back on the history of sequencing technology development to review the NGS systems (454, GA/HiSeq, and SOLiD), to compare their advantages and disadvantages, to discuss the various applications, and to evaluate the recently introduced PGM (personal genome machines) and third-generation sequencing technologies and applications. All of these aspects will be described in this paper. Most data and conclusions are from independent users who have extensive first-hand experience in these typical NGS systems in BGI (Beijing Genomics Institute).
