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

Alexander Mazein*, Marek Ostaszewski, Inna Kuperstein, Steven Watterson, Nicolas Le Novère, Diane Lefaudeux, Bertrand De Meulder, Johann Pellet, Irina Balaur, Mansoor Saqi, Maria Manuela Nogueira, Feng He, Andrew Parton, Nathanaël Lemonnier, Piotr Gawron, Stephan Gebel, Pierre Hainaut, Markus Ollert, Ugur Dogrusoz, Emmanuel BarillotAndrei Zinovyev, Reinhard Schneider, Rudi Balling, Charles Auffray

*Corresponding author for this work

Research output: Contribution to journalArticleResearchpeer-review

73 Citations (Scopus)


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.

Original languageEnglish
Article number21
Journalnpj Systems Biology and Applications
Issue number1
Publication statusPublished - 1 Dec 2018


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