The effect of next-generation sequencing technology on complex trait research

Eur J Clin Invest. 2011 May;41(5):561-7. doi: 10.1111/j.1365-2362.2010.02437.x. Epub 2010 Dec 14.


Background: Advances in the understanding of complex trait genetics have always been enabled by advances in genomic technology. Next-generation sequencing (NGS) is set to revolutionize the way complex trait genetics research is carried out.

Results: NGS has multiple applications in the field of human genetics, but is accompanied by substantial study design, analysis and interpretation challenges. This review discusses key aspects of study design considerations, data handling issues and required analytical developments. We also highlight early successes in mapping genetic traits using NGS.

Conclusion: NGS opens the entire spectrum of genomic alterations for the genetic analysis of complex traits and there are early publications illustrating its power. Continuing development in analytical tools will allow the promise of NGS to be realized.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Disease / genetics
  • Genetic Research
  • Genome, Human / genetics*
  • Genomics / methods*
  • Genotype
  • Humans
  • Research Design
  • Sequence Analysis, DNA / methods*
  • Sequence Analysis, DNA / trends