Network-guided search for genetic heterogeneity between gene pairs

Anja C. Gumpinger, Bastian Rieck, Dominik G. Grimm, Karsten M. Borgwardt

Abstract: Correlating genetic loci with a disease phenotype is a common approach to improve our understanding of the genetics underlying complex diseases. Standard analyses mostly ignore two aspects, namely genetic heterogeneity and interactions between loci. Genetic heterogeneity, the phenomenon that genetic variants at different loci lead to the same phenotype, promises to increase statistical power by aggregating low-signal variants. Incorporating interactions between loci results in a computational and statistical bottleneck due to the vast amount of candidate interactions.