structural-variant-detector

Included with Lifetime

$97 forever

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

General

What this skill does


# 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)

Files: 1

Size: 1.3 KB

Complexity: 9/100

Category: General

Source: https://github.com/a5c-ai/babysitter/tree/main/library/specializations/domains/science/bioinformatics/skills/structural-variant-detector

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