Advances in Whole Genome Sequencing Technology

Jianhua      Zhao; Struan      F.A. Grant

Abstract

Sanger sequencing revolutionized the field of genetics by becoming the standard approach to appraise a given region of the genome at base-level resolution. However, the relatively recent need to sequence entire genomes has driven innovative developments within the market-place to allow for sequencing technology to be faster, cheaper and more accurate. In this review, we will cover these recent developments from both a technical and cost perspective. Firstly, we will place sequencing in a historical context by describing how it first came to the attention of the scientific community. Next, we will address the current high-throughput technologies generally available, including Roches 454, Illuminas Genome Analyzer, Applied BioSystems SOLiD, Complete Genomics, Helios, Pacific Biosciences and IonTorrent. These ‘next generation’ technologies also allow for applications related to target region deep sequencing, epigenetics(ChIP-seq), transcriptome sequencing (RNA-seq), megagenomics. Thus, these technologies offer unprecedented opportunities to increase our understanding of the functions and dynamics of the human genome in the near future.

Keywords: Genome, sequencing, technology, applications, tran-scriptome sequencing (RNA-seq), megagenomics, HapMap project, genome wide association studies, asthma, prostate cancer, inflammatory bowel disease, DNA synthesis, polymerase, triphosphates, dideoxynucleotide triphos-phates (ddNTPs), next generation sequencing (NGS), Il-lumina's Genome Analyzer (GA), clonal bridge-amplification, transcriptome sequencing, Mycoplasma genitalia, Pi-coTiterPlate (PTP), chemiluminescent detection, single stranded DNA, sulphurylase, luciferase, nucleotide complementary, single nucleotide flow, oligonucleotides, fluorophore, polystyrene, Complete Genomics, combinatorial probe-anchor ligation (cPAL) technology, photolithographically etched pat-terned array, fluorescent dyes, hybridization, Pacific Biosciences, Helicos Biosciences, True Single Molecule Se-quencing (tSMS), phosphor-linked nucleotides, zero-mode waveguides, silicon dioxide, phosphodiester bond, Ion Torrent, RainDance Technologies, intron-exon boundary, Chromatin-immunopreci-pitation, Arabidopsis, epigenetics