The Bioinformatics Magazine of Oxford University regarded as the most important in the field of bioinformatics published this week details on a tool developed by Costa Rican scientists.
The visualization portal for genetic variation (VizGVar) is a tool for interactive visualization of SNPs and somatic mutations in exons, genes and protein domains; in other words, it helps visualize the patterns of genetic variation which could be relevant to different diseases.
The tool is the product of the work of engineers Antonio Solano and Verónica Alfaro, programmer Carlos Cruz and bioinformatics doctor Allan Orozco. “This instrument helps analyze all the genetic variations in the field of molecular medicine. Is the first bioinformatics tool that is developed in Costa Rica and one of the first in Latin America,” explained Dr. Allan Orozco.
This is the first time a Costa Rican project is published in this magazine. The project took close to two years to complete.
The article includes an abstract of the project:
“We implemented a new information architecture and applied user centered design principles to provide a new improved way of visualizing genetic information and protein data related to human disease. VizGVar connects the entire database of Ensembl protein motifs, domains, genes and exons with annotated SNPs and somatic variations from PharmGKB and COSMIC.
VizGVar precisely represents genetic variations and their respective location by colored curves to designate different types of variations. The structured hierarchy of biological data is reflected in aggregated patterns through different levels, integrating several layers of information at once.
The documentation is available in a separate link. http://vizport.io/vizgvar/doc/