Science

GenomeWide Association Studies (GWAS) comprehensively compare common genetic variants in affected and control populations to identify variants that are potentially asso-ciated with diseases. In recent years, GWAS successfully identified susceptible genes for many diseases. However, limitations of GWAS in uncovering the cellular mechanisms of complex diseases have been increasingly pronounced. In particular, GWAS analyze disease associations at the single variant level (e.g., single nucleotide polymorphism – SNP), however the functional links between these variants and the disease manifest at the level of genes, their products, and interactions. Since many genes are associated with multiple SNPs (within their coding and regulatory regions, i.e., re-gions of interest), it is not straightforward to characterize th