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.
History
Publication title
Genome Research
Volume
19
Issue
11
Pagination
2075-2080
ISSN
1088-9051
Department/School
Tasmanian School of Medicine
Publisher
Cold Spring Harbor Lab Press
Place of publication
Publications Dept, 500 Sunnyside Blvd, Woodbury, USA, Ny, 11797-2924
Rights statement
Copyright 2009 Cold Spring Harbor Laboratory Press