title: Human diseases through the lens of network biology.
abstract: 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.
authors.affiliation: Research Programme on Biomedical Informatics (GRIB), Hospital del Mar Medical Research Institute (IMIM), Universitat Pompeu Fabra (UPF), C/Dr. Aiguader, 88, 08003 - Barcelona, Spain. lfurlong@imim.es
authors.forename: Laura I
authors.initials: LI
authors.lastname: Furlong
mesh_terms: D000818:Animals; D015415:Biomarkers; D059647:Gene-Environment Interaction; D023281:Genomics; D006801:Humans; D040901:Proteomics; D049490:Systems Biology
chemical_list: D015415:Biomarkers