Systems medicine disease maps: community-driven comprehensive representation of disease mechanisms

The development of computational approaches in systems biology has reached a state of maturity that allows their transition to systems medicine. Despite this progress, intuitive visualisation and context-dependent knowledge representation still present a major bottleneck. In this paper, we describe...

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Published in:NPJ systems biology and applications 2018-06, Vol.4 (1), p.21-10, Article 21
Main Authors: Mazein, Alexander, Ostaszewski, Marek, Kuperstein, Inna, Watterson, Steven, Le Novère, Nicolas, Lefaudeux, Diane, De Meulder, Bertrand, Pellet, Johann, Balaur, Irina, Saqi, Mansoor, Nogueira, Maria Manuela, He, Feng, Parton, Andrew, Lemonnier, Nathanaël, Gawron, Piotr, Gebel, Stephan, Hainaut, Pierre, Ollert, Markus, Dogrusoz, Ugur, Barillot, Emmanuel, Zinovyev, Andrei, Schneider, Reinhard, Balling, Rudi, Auffray, Charles
Format: Article
Language:English
Subjects:
Computer applications
Phenotypes
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Summary:The development of computational approaches in systems biology has reached a state of maturity that allows their transition to systems medicine. Despite this progress, intuitive visualisation and context-dependent knowledge representation still present a major bottleneck. In this paper, we describe the Disease Maps Project, an effort towards a community-driven computationally readable comprehensive representation of disease mechanisms. We outline the key principles and the framework required for the success of this initiative, including use of best practices, standards and protocols. We apply a modular approach to ensure efficient sharing and reuse of resources for projects dedicated to specific diseases. Community-wide use of disease maps will accelerate the conduct of biomedical research and lead to new disease ontologies defined from mechanism-based disease endotypes rather than phenotypes.
ISSN:2056-7189
2056-7189
DOI:10.1038/s41540-018-0059-y