Visualization of automatically combined disease maps and pathway diagrams for rare diseases.

ABSTRACT: Introduction: Investigation of molecular mechanisms of human disorders, especially rare diseases, require exploration of various knowledge repositories for building precise hypotheses and complex data interpretation. Recently, increasingly more resources offer diagrammatic representation of such mechanisms, including disease-dedicated schematics in pathway databases and disease maps. However, collection of knowledge across them is challenging, especially for research projects with limited manpower. Methods: In this article we present an automated workflow for construction of maps of molecular mechanisms for rare diseases. The workflow requires a standardized definition of a disease using Orphanet or HPO identifiers to collect relevant genes and variants, and to assemble a fun

SUBMITTER: Gawron P 

PROVIDER: S-EPMC10369067 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature