Source: https://github.com/aipoch/medical-research-skills

CNV Caller & Plotter

Detect copy number variations (CNVs) from whole genome sequencing (WGS) data and generate genome-wide visualization plots for cancer genomics, rare disease analysis, and population genetics studies. Provides CNV calling, segmentation analysis, and publication-ready visualization.

Key Capabilities:

• CNV Detection from WGS: Identify copy number gains and losses from aligned sequencing data
• Genomic Segmentation: Divide genome into bins/windows for copy number estimation
• Flexible Input Support: Process BAM, VCF, and other standard genomics formats
• Publication-Quality Plots: Generate genome-wide CNV profiles in PNG, PDF, or SVG formats
• Standard Output Formats: Export CNV calls in BED format for downstream analysis

When to Use

• Use this skill when the task is to Detect copy number variations from whole genome sequencing data and generate publication-quality genome-wide CNV plots. Supports CNV calling, segmentation, and visualization for cancer genomics and rare disease analysis.
• Use this skill for data analysis tasks that require explicit assumptions, bounded scope, and a reproducible output format.
• Use this skill when you need a documented fallback path for missing inputs, execution errors, or partial evidence.