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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

Editorial Board Member: Gillery, Philippe / Kazmierczak, Steven / Lackner, Karl J. / Lippi, Giuseppe / Melichar, Bohuslav / Schlattmann, Peter / Whitfield, John B.

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Rank 5 out of 29 in category Medical Laboratory Technology in the 2013 Thomson Reuters Journal Citation Report/Science Edition

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Do genome-wide association scans have potential for translation?

Margarida C. Lopes1, 2 / 1 / Kalliope Panoutsopoulou1

1Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK

2Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK

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

Citation Information: Clinical Chemistry and Laboratory Medicine. Volume 50, Issue 2, Pages 255–260, ISSN (Online) 1437-4331, ISSN (Print) 1434-6621, DOI: 10.1515/cclm.2011.748, October 2011

Publication History

Received:
2011-04-07
Accepted:
2011-09-17
Published Online:
2011-10-25

Abstract

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

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