Systems Medicine Disease Maps: Community-driven Comprehensive Representation of Disease Mechanisms

Overview

Journal NPJ Syst Biol Appl

Specialty Biology

Date 2018 Jun 7

PMID 29872544

Citations 45

Authors

Alexander Mazein

Marek Ostaszewski

Inna Kuperstein

Steven Watterson

Nicolas Le Novere

Diane Lefaudeux

Bertrand De Meulder

Johann Pellet

Irina Balaur

Mansoor Saqi

Maria Manuela Nogueira

Feng He

Andrew Parton

Nathanael Lemonnier

Piotr Gawron

Stephan Gebel

Pierre Hainaut

Markus Ollert

Ugur Dogrusoz

Emmanuel Barillot

Andrei Zinovyev

Reinhard Schneider

Rudi Balling

Charles Auffray

Affiliations

Soon will be listed here.

Abstract

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.

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