Structural Variant Detector Skill

Purpose

Enable structural variant detection for identifying CNVs, inversions, translocations, and complex rearrangements.

Capabilities

• Split-read and paired-end SV calling
• Copy number variation detection
• Mobile element insertion detection
• Complex SV resolution
• SV annotation and visualization
• Multi-caller integration

Usage Guidelines

• Use multiple callers for comprehensive detection
• Integrate results from different algorithms
• Validate SVs with independent methods
• Annotate SVs with functional impact
• Visualize SVs for manual review
• Document caller combinations and filters

Dependencies

• Manta
• DELLY
• CNVkit
• LUMPY
• GRIDSS

Process Integration

• Whole Genome Sequencing Pipeline (wgs-analysis-pipeline)
• Tumor Molecular Profiling (tumor-molecular-profiling)
• Long-Read Sequencing Analysis (long-read-analysis)