structural-variant-detector
Structural variant detection skill for identifying CNVs, inversions, translocations, and complex rearrangements
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命中总数0 处
命中统计严重 0 · 高 0 · 中 0 · 低 0
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技能内容
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)
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原文件路径
library/specializations/domains/science/bioinformatics/skills/structural-variant-detector/SKILL.md