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Updated: Apr 28, 2026

Mapping Dysfunctional Protein-Protein Interactions in Disease
Published on: October 24, 2025
Protein-protein interactions and genetic diseases: The interactome
1Department of Surgery and Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA; The Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Abstract:
Protein-protein interactions mediate essentially all biological processes. Despite the quality of these data being widely questioned a decade ago, the reproducibility of large-scale protein interaction data is now much improved and there is little question that the latest screens are of high quality. Moreover, common data standards and coordinated curation practices between the databases that collect the interactions have made these valuable data available to a wide group of researchers. Here, I will review how protein-protein interactions are measured, collected and quality controlled. I discuss how the architecture of molecular protein networks has informed disease biology, and how these data are now being computationally integrated with the newest genomic technologies, in particular genome-wide association studies and exome-sequencing projects, to improve our understanding of molecular processes perturbed by genetics in human diseases. This article is part of a Special Issue entitled: From Genome to Function.
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