In the field of epidemiology, Genome Wide Association Studies (GWAS) are commonly used to identify genetic predispositions of many human diseases. Large repositories housing biological specimen for clinical and genetic investigations have been established to store biological material and clinical data for these studies. The logistics of specimen collection and sample storage can be onerous, and new strategies have to be explored. This study examines the use of a sample collection and storage system known as FTATM for a GWAS application using the Illumina high throughput genotyping platform. For these applications, the quality of DNA is important. Although fragmented DNA results in poor reads, these can be improved with a whole genome amplification step prior to genotyping. A GWAS analysis performed on the amplified DNA showed that there was no significant difference in call rate between amplified genomic DNA extracted from FTATM cards when compared to fragmented DNA from whole blood. The use of FTATM sourced DNA increased the call rate of the samples (mean of 96.6%) when compared with fragmented DNA which showed a low number of SNP calls affecting the call rate (mean of 42.6%). This study establishes the utility of FTATM cards as a viable storage matrix for cells from which DNA can be extracted to perform GWAS analysis.

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