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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 Barillot | Andrei Zinovyev | Reinhard Schneider | Rudi Balling | Charles Auffray
NPJ systems biology and applications | 2018

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.

Pubmed ID: 29872544

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This is a list of tools and resources that we have found mentioned in this publication.


cPath (tool)

RRID:SCR_001749

Data management software that runs the Pathway Commons web service. It makes it easy to aggregate custom pathway data sets available in standard exchange formats from multiple databases, present pathway data to biologists via a customizable web interface, and export pathway data via a web service to third-party software, such as Cytoscape, for visualization and analysis. cPath is software only, and does not include new pathway information. Main features: * Import pipeline capable of aggregating pathway and interaction data sets from multiple sources, including: MINT, IntAct, HPRD, DIP, BioCyc, KEGG, PUMA2 and Reactome. * Import/Export support for the Proteomics Standards Initiative Molecular Interaction (PSI-MI) and the Biological Pathways Exchange (BioPAX) XML formats. * Data visualization and analysis via Cytoscape. * Simple HTTP URL based XML web service. * Complete software is freely available for local install. Easy to install and administer. * Partly funded by the U.S. National Cancer Institute, via the Cancer Biomedical Informatics Grid (caBIG) and aims to meet silver-level requirements for software interoperability and data exchange.

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Google Docs (tool)

RRID:SCR_005886

Authoring tool to create, share, and collaborate on the web with documents, spreadsheets, presentations, and more in real time. All your changes are saved automatically in Drive.

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CellDesigner: A modeling tool of biochemical networks (tool)

RRID:SCR_007263

CellDesigner is a structured diagram editor for drawing gene-regulatory and biochemical networks. Networks are drawn based on the process diagram, with graphical notation system proposed by Kitano, and are stored using the Systems Biology Markup Language (SBML), a standard for representing models of biochemical and gene-regulatory networks. Networks are able to link with simulation and other analysis packages through Systems Biology Workbench (SBW). By using CellDesigner, you can browse and modify existing SBML models with references to existing databases, simulate and view the dynamics through an intuitive graphical interface. Sponsors: ERATO-SORST program (JST); International Standard Development area of the International Joint Research Grant (NEDO); Strategic Japanese-Swedish Cooperative Program on Multidisciplinary BIO (JST-VINNOVA/SSF); Establishment of a Human Genome Network Platform (MEXT) and through the special coordination funds for promoting science and technology from the Japanese government''s Ministry of Education, Culture, Sports, Science and Technology (MEXT) Keywords: Cell, Designer, Gene, Biochemical, Network, Diagram, Biology, System, Gene, Biolohy, Database,

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