Advances in whole genome sequencing technology

Curr Pharm Biotechnol. 2011 Feb 1;12(2):293-305. doi: 10.2174/138920111794295729.


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 Roche's 454, Illumina's Genome Analyzer, Applied BioSystem's 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.

Publication types

  • Review

MeSH terms

  • Animals
  • Base Sequence
  • Chromosome Mapping
  • Epigenomics
  • Gene Expression Profiling
  • Genome*
  • Genome, Human*
  • Genomics / methods*
  • High-Throughput Nucleotide Sequencing / methods*
  • Humans
  • Molecular Sequence Data
  • Oligonucleotide Array Sequence Analysis
  • RNA


  • RNA