--- name: structural-variant-detector description: Structural variant detection skill for identifying CNVs, inversions, translocations, and complex rearrangements allowed-tools: - Read - Write - Glob - Grep - Edit - WebFetch - WebSearch - Bash metadata: version: "1.0" category: bioinformatics tags: - variant-analysis - structural-variants - cnv - sv --- # 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)