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Clinical Chemistry and Laboratory Medicine (CCLM)

Published in Association with the European Federation of Clinical Chemistry and Laboratory Medicine (EFLM)

Editor-in-Chief: Plebani, Mario

Ed. by Gillery, Philippe / Lackner, Karl J. / Lippi, Giuseppe / Melichar, Bohuslav / Payne, Deborah A. / Schlattmann, Peter / Tate, Jillian R.

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Volume 50, Issue 2 (Feb 2012)


Do genome-wide association scans have potential for translation?

Margarida C. Lopes
  • Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK
  • Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK
/ Eleftheria Zeggini
  • Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK
  • Email:
/ Kalliope Panoutsopoulou
  • Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK
Published Online: 2011-10-25 | DOI: https://doi.org/10.1515/cclm.2011.748


The success of genome-wide association studies (GWAS) in identifying replicating associations has greatly contributed to understanding of the genetic aetiology of complex diseases. This review discusses and provides examples of the potential of GWAS findings to be translated into clinical practice, i.e., diagnosis, prediction, prognosis, novel treatments and response to treatment of common diseases. The biological insights afforded by newly-identified robust associations represent the largest, albeit indirect, translational contribution of GWAS.

Keywords: clinical applications; genome-wide association studies; translation

About the article

Corresponding author: Dr. Eleftheria Zeggini, Wellcome Trust Sanger Institute, The Morgan Building, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1HH, UK Phone: +44 1223 496868, Fax: +44 1223 496826

Received: 2011-04-07

Accepted: 2011-09-17

Published Online: 2011-10-25

Published in Print: 2012-02-01

Citation Information: Clinical Chemistry and Laboratory Medicine (CCLM), ISSN (Online) 1437-4331, ISSN (Print) 1434-6621, DOI: https://doi.org/10.1515/cclm.2011.748. Export Citation

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