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dSysMap: Exploring the edgetic role of disease mutations

1 Apr 2015

Considering pathological genetic variants within the context of the human interactome network can help understanding the intricate genotype-to-phenotype relationships behind human diseases. It allows, for instance, to distinguish between changes that totally suppress a gene product (i.e. node removal) from the ones that might affect only one of its functions, modulating the way in which the protein interacts with its partners (i.e. edge-specific or edgetic1). Here, we present dSysMap, a resource for the systematic mapping of disease-related missense mutations on the structurally annotated binary human interactome from Interactome3D.

Mosca R, Tenorio-Laranga J, Olivella R, Alcalde V, Céol A, Soler-López M, Aloy P. dSysMap: Exploring the edgetic role of disease mutations. Nat Methods. 2015 Mar;12(3):167-8.