Related Experiment Video
Updated: Feb 19, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Visualization portal for genetic variation (VizGVar): a tool for interactive visualization of SNPs and somatic
Antonio Solano-Román1,2, Verónica Alfaro-Arias1, Carlos Cruz-Castillo3
1Department of Industrial Design Engineering, Costa Rica Institute of Technology (TEC), Cartago 30101, Costa Rica.
Motivation:
VizGVar was designed to meet the growing need of the research community for improved genomic and proteomic data viewers that benefit from better information visualization.
Results:
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. VizGVar provides a new interactive, web-based JavaScript visualization of somatic mutations and protein variation, enabling fast and easy discovery of clinically relevant variation patterns.
Availability And Implementation:
VizGVar is accessible at http://vizport.io/vizgvar; http://vizport.io/vizgvar/doc/.
Contact:
asolano@broadinstitute.org or allan.orozcosolano@ucr.ac.cr.
More Related Videos
Related Concept Videos
Comparing Copy Number Variations and SNPs
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Genetic Variation
Genes exist in different versions called alleles,...
Single Nucleotide Polymorphisms-SNPs
Genetic Screens
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...
Evolutionary Relationships through Genome Comparisons
Spontaneous and Induced Mutations

