Genome wide association studies (GWAS) have identified thousands of SNPs that are associated with various human diseases1. However, the majority of identified SNPs fall in the non-coding regions of the genome2. Connecting these regulatory changes to specific genes or to molecular pathways that may be implicated in human diseases is not straightforward. Suggestive evidence indicate that many more such SNPs exist, but they are difficult to detect due to their typically small effect sizes and the challenge of multiple testing burden in genome-wide assessment of common genetic variation3.
