Modularity in the genetic disease-phenotype network

Abstract 

Similar disease phenotypes are engendered as a result of the modular nature of gene networks; thus we hypothesized that all human genetic disease phenotypes appear in similar modular styles. Network representations of phenotypes make it possible to explore this hypothesis. We investigated the modularity of a network of genetic disease phenotypes. We computationally extracted phenotype modules and found that the modularity is well correlated with a physiological classification of human diseases. We also found correlations between the modularity and functional genomics as well as its connection to drug-target associations.

Abbreviations: OMIM, Online Mendelian Inheritance in Man, FDA, Food and Drug Administration, MSC, module-specific coefficient

Keywords: Modularity, Phenotype/genotype relation, Classification, Systems biology