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Genome-wide association studies (GWAS) have now successfully identified important genetic variants associated with many human traits and diseases. The high cost of genotyping arrays in large data sets remains the major barrier to wider utilization of GWAS. We have developed a novel method in which whole blood from cases and controls, respectively, is pooled prior to DNA extraction for genotyping. We demonstrate proof of principle by clearly identifying the associated variants for eye color, age-related macular degeneration, and pseudoexfoliation syndrome in cohorts not previously studied. Blood pooling has the potential to reduce GWAS cost by several orders of magnitude and dramatically shorten gene discovery time. This method has profound implications for translation of modern genetic approaches to a multitude of diseases and traits yet to be analyzed by GWAS, and will enable developing nations to participate in GWAS.

Item Type:	Refereed Article
Research Division:	Medical and Health Sciences
Research Group:	Ophthalmology and Optometry
Research Field:	Ophthalmology
Objective Division:	Health
Objective Group:	Clinical Health (Organs, Diseases and Abnormal Conditions)
Objective Field:	Hearing, Vision, Speech and Their Disorders
Author:	Hewitt, AW (Professor Alex Hewitt)
Author:	Burdon, KP (Associate Professor Kathryn Burdon)
ID Code:	91097
Year Published:	2009
Web of Science® Times Cited:	27
Deposited By:	Menzies Institute for Medical Research
Deposited On:	2014-05-07
Last Modified:	2014-10-06
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