Graphical visualization and navigation of genetic disease information

Area of Science:

• Molecular Biology
• Genetics
• Bioinformatics

Background:

• Discovering novel genes and their disease associations is crucial in molecular biology.
• Existing resources like LocusLink provide curated gene information but lack graphical visualization of genotype-phenotype links.
• There is a need for intuitive navigation between genetic information and disease manifestations.

Purpose of the Study:

• To develop a novel application, g2p, for graphical visualization and navigation of genetic disease information.
• To specifically enhance the understanding of the genotype-phenotype relationship.
• To provide an interactive tool for exploring gene-disease associations.

Main Methods:

• Developed the g2p application utilizing the GraphViz package for graph visualization.
• Queried LocusLink for human genes associated with known diseases, encompassing genotypes, phenotypes, and their associations.
• Implemented distinct views: a phenotype view from a disease query and a genotype view from a gene query.

Main Results:

• The g2p application successfully visualizes genotype-phenotype associations.
• Users can navigate from a disease to associated genes (e.g., Bladder cancer to RB1) and vice versa.
• Navigable elements (double frames) indicate genes linked to multiple diseases or diseases linked to multiple genes, facilitating deeper exploration.

Conclusions:

• The g2p application offers a powerful new way to visualize and navigate genetic disease data.
• It effectively bridges the gap between genotype and phenotype, aiding biomedical research.
• This tool enhances the exploration of complex gene-disease networks.