BioHackathon Europe, Paris, France, 2019

BH19EU

biohackathon_name: "BioHackathon Europe, Paris, France, 2019"

Preprints

Disease and pathway maps for Rare Diseases

In this article we present a workflow for construction of prototype rare disease maps based on the phenotypic description of a rare disease. We use stable disease and phenotype identifiers to i) retrieve disease-associated genes and genetic variants, ii) identify relevant mechanistic components from pathways, disease maps and interaction repositories, and iii) assemble these components into single diagram, available for visualisation and pathway analysis. The workflow allows construction of prototype diagrams representing mechanisms related to a rare disease, useful for further refinement and data interpretation. less than 1 minute read

TogoEx: the integration of gene expression data

Report on the group ‘TogoEx’ in the BioHackathon Europe 2019. less than 1 minute read