Genotype to phenotype via network analysis

Curr Opin Genet Dev. 2013 Dec;23(6):611-21. doi: 10.1016/j.gde.2013.10.003. Epub 2013 Nov 14.

Abstract

A prime objective of genomic medicine is the identification of disease-causing mutations and the mechanisms by which such events result in disease. As most disease phenotypes arise not from single genes and proteins but from a complex network of molecular interactions, a priori knowledge about the molecular network serves as a framework for biological inference and data mining. Here we review recent developments at the interface of biological networks and mutation analysis. We examine how mutations may be treated as a perturbation of the molecular interaction network and what insights may be gained from taking this perspective. We review work that aims to transform static networks into rich context-dependent networks and recent attempts to integrate non-coding RNAs into such analysis. Finally, we conclude with an overview of the many challenges and opportunities that lie ahead.

Publication types

  • Research Support, N.I.H., Extramural
  • Review

MeSH terms

  • Gene Regulatory Networks*
  • Genetic Association Studies / methods*
  • Genetic Predisposition to Disease / genetics*
  • Genotype
  • Humans
  • Models, Genetic
  • Mutation*
  • Phenotype