• Open Access

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


Eleftheria Zeggini, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK CB10 1HH. Tel.: ++44 1223 496868; fax: ++44 1223 496826; e-mail: Eleftheria@sanger.ac.uk


Eur J Clin Invest 2011; 41 (5): 561–567


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.