RT Journal
A1 Craig, Jamie E.
A1 Hewitt, Alex W.
A1 McMellon, Amy E.
A1 Henders, Anjali K.
A1 Ma, Lingjun
A1 Wallace, Leanne
A1 Sharma, Shiwani
A1 Burdon, Kathryn P.
A1 Visscher, Peter M.
A1 Montgomery, Grant W.
A1 MacGregor, Stuart
T1 Rapid inexpensive genome-wide association using pooled whole blood
JF Genome Research 
JO Genome Research 
YR 2009 
FD November 01 
VO 19 
IS 11 
SP 2075 
OP 2080 
DO 10.1101/gr.094680.109 
UL http://genome.cshlp.org/content/19/11/2075.abstract 
AB 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.