Novel Methods for Epistasis Detection in Genome-Wide Association Studies


As the size of genome-wide association studies (GWAS) increases, detecting interactions among single nucleotide polymorphisms (SNP) or genes associated to particular phenotypes is garnering more and more interest as a means to decipher the full genetic basis of complex diseases. Systematically testing interactions is however challenging both from a computational and from a statistical point of view, given the large number of possible interactions to consider. In this paper we propose a framework to identify pairwise interactions with a particular target variant, using a penalized regression approach. Narrowing the scope of interaction identification around a predetermined target provides increased statistical power and better interpretability, as well as computational scalability. We compare our new methods to state-of-the-art techniques for epistasis detection on simulated and real data, and demonstrate the benefits of our framework to identify pairwise interactions in several experimental settings.