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Briefings in Functional Genomics Advance Access originally published online on July 1, 2009
Briefings in Functional Genomics 2009 8(5):345-352; doi:10.1093/bfgp/elp020
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This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/2.0/uk/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

This article appears in the following Briefings in Functional Genomics and Proteomics issue: Special Issue: Polymorphism, population genetics and natural variation [View the issue table of contents]

Special Issue Papers

Finding common susceptibility variants for complex disease: past, present and future

Kalliope Panoutsopoulou and Eleftheria Zeggini

Corresponding author. Eleftheria Zeggini, Wellcome Trust Sanger Institute, The Morgan Building, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1HH, UK. Tel: +44 1223 496868; Fax: +44 1223 496826; E-mail: eleftheria{at}sanger.ac.uk

The identification of complex disease susceptibility loci has been accelerated considerably by advances in high-throughput genotyping technologies, improved insight into correlation patterns of common variants and the availability of large-scale sample sets. Linkage scans and small-scale candidate gene studies have now given way to genome-wide association scans. In this review, we summarize insights gained from the past, highlight practical issues relating to the design and analysis of current state-of-the-art GWA studies and look into future trends in the field of human complex trait genetics.

Keywords: association study, complex disease, single nucleotide polymorphism, genome-wide association scan, meta-analysis, sequencing


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