Disease and pathway maps for Rare Diseases

Abstract excerpt

<p>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, avai...

Topics

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• Biological Ontologies
• Computational Biology
• Gene Ontology
• Gene Regulatory Networks
• Genetic Predisposition to Disease
• Models, Statistical
• Phenotype
• Rare Diseases

Identifiers and source

Literature Corpus work

bd7eb283-b304-5e96-9a72-704a59d3ba7f

DOI

10.37044/osf.io/gmbjv