structural-variant-detector

Solid

Structural variant detection skill for identifying CNVs, inversions, translocations, and complex rearrangements

AI & Automation 814 stars 53 forks Updated today MIT

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Skill Content

# 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)

Details

Author
a5c-ai
Repository
a5c-ai/babysitter
Created
4 months ago
Last Updated
today
Language
JavaScript
License
MIT

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