intansv

intansv integrates and annotates structural variation (SV) predictions from multiple SV-calling tools to support analysis and visualization of deletions, duplications, inversions, and translocations in genomic data.

Key Features:

• Integration of SV predictions: Reads and integrates structural variation predictions from widely used bioinformatics tools to consolidate SV calls across callers.
• Annotation capabilities: Enriches SV datasets with biological annotations to aid interpretation of genomic structural variants.
• Visualization functions: Produces visual representations of structural variations to facilitate inspection of deletions, duplications, inversions, and translocations.

Scientific Applications:

• Cancer genomics: Analysis of somatic structural variants to investigate gene disruption, fusion events, and genomic rearrangements in tumors.
• Genetic disorder studies: Characterization of germline deletions, duplications, inversions, and translocations implicated in inherited diseases.
• Evolutionary biology: Comparison of structural variation across genomes to study genome evolution and species divergence.

Methodology:

Implemented in the R statistical programming language and distributed within the Bioconductor framework, leveraging Bioconductor's initial review and automated testing infrastructure.