PhenUMA: a tool for integrating the biomedical relationships among genes and diseases

BMC Bioinformatics

Rocío Rodríguez-López¹  Armando Reyes-Palomares¹  Francisca Sánchez-Jiménez¹  Miguel Ángel Medina¹ 

[1] CIBER de Enfermedades Raras (CIBERER), Málaga, E-29071, Spain

关键词: Network biology;    Network medicine;    Systems biology;    Gene-disease relationships;    Phenotypic relationships;    Functional relationships;   

Others  :  1084894
DOI  :  10.1186/s12859-014-0375-1

 received in 2014-04-21, accepted in 2014-11-04,  发布年份 2014

【 摘 要 】

Background

Several types of genetic interactions in humans can be directly or indirectly associated with the causal effects of mutations. These interactions are usually based on their co-associations to biological processes, coexistence in cellular locations, coexpression in cell lines, physical interactions and so on. In addition, pathological processes can present similar phenotypes that have mutations either in the same genomic location or in different genomic regions. Therefore, integrative resources for all of these complex interactions can help us prioritize the relationships between genes and diseases that are most deserving to be studied by researchers and physicians.

Results

PhenUMA is a web application that displays biological networks using information from biomedical and biomolecular data repositories. One of its most innovative features is to combine the benefits of semantic similarity methods with the information taken from databases of genetic diseases and biological interactions. More specifically, this tool is useful in studying novel pathological relationships between functionally related genes, merging diseases into clusters that share specific phenotypes or finding diseases related to reported phenotypes.

Conclusions

This framework builds, analyzes and visualizes networks based on both functional and phenotypic relationships. The integration of this information helps in the discovery of alternative pathological roles of genes, biological functions and diseases. PhenUMA represents an advancement toward the use of new technologies for genomics and personalized medicine.

【 授权许可】

   
2014 Rodríguez-López et al; licensee BioMed Central Ltd.

【 图 表 】

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