4.6 Review

Human diseases through the lens of network biology

Journal

TRENDS IN GENETICS
Volume 29, Issue 3, Pages 150-159

Publisher

ELSEVIER SCIENCE LONDON
DOI: 10.1016/j.tig.2012.11.004

Keywords

systems biology; protein interaction networks; disease; personal genomes; translational bioinformatics; network biology

Funding

  1. IMI [115002, 115191]
  2. EU FP7
  3. European Federation of Pharmaceutical Industries and Associations (EFPIA) companies'
  4. Instituto de Salud Carlos III FEDER [CP10/00524]

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One of the challenges raised by next generation sequencing (NGS) is the identification of clinically relevant mutations among all the genetic variation found in an individual. Network biology has emerged as an integrative and systems-level approach for the interpretation of genome data in the context of health and disease. Network biology can provide insightful models for genetic phenomena such as penetrance, epistasis, and modes of inheritance, all of which are integral aspects of Mendelian and complex diseases. Moreover, it can shed light on disease mechanisms via the identification of modules perturbed in those diseases. Current challenges include understanding disease as a result of the interplay between environmental and genetic perturbations and assessing the impact of personal sequence variations in the context of networks. Full realization of the potential of personal genomics will benefit from network biology approaches that aim to uncover the mechanisms underlying disease pathogenesis, identify new biomarkers, and guide personalized therapeutic interventions.

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