To make it easier to build disease maps (see Disease Maps Community website>), as this is a time-consuming task. Disease maps support research on molecular mechanisms, but their development requires dedicated resources. we want so specifically help Rare Diseases (RD), as these disorders are not sufficiently represented across major bioinformatics resources or pathway databases. We want to systematically scan existing disease-focused resources and offer insights into specific RDs.
Our workflow called automap (see on gitlab)
links together existing tools and platforms for visual exploration and analysis of
knowledge about disease mechanisms in rare diseases. We focus on repositories with well-defined APIs to
facilitate their integration. We query resources with diagrammatic representation of molecular mechanisms
(disease maps, pathway databases) and assemble them into a single map, which can be directly uploaded to
the MINERVA Platform for visual exploration, and further refined.
For an example, you can check the Kawasaki disease map.
