SV.iobio is an interactive tool designed to assist with visualizing and analyzing structural variants (SVs) from variant call files (VCFs). Users can upload files from their local system or an HTTP-accessible link, select samples, and explore genomic variants in an intuitive interface.
🔍 Dynamic Chromosome Map – SVs are mapped to chromosomal locations, allowing users to zoom in and visually inspect regions of interest.
🖱️ Interactive Exploration – Click on SVs to view detailed annotations, including overlapping genes, phenotypic associations, and population frequency data.
🧬 Gene & Phenotype Integration – Enter HPO terms (Human Phenotype Ontology) or genes of interest, and the application will highlight relevant overlaps with structural variants.
📊 Variant Overlap & Population Data – The tool checks for common SVs, identifies overlaps with known variants from aggregated population sources, and provides insights into gene dosage sensitivity.
⚡ Efficient Case Analysis – Designed to streamline structural variant interpretation, helping researchers and clinicians quickly identify clinically relevant alterations.
This tool is designed to enhance case analysis workflows by providing a clear, interactive, and informative view of structural variant data, helping researchers and clinicians investigate genomic alterations more effectively.
SV.iobio is under active development but is available publicly on the web. SV.iobio Website Link
