bio-copy-number-gatk-cnv

Installation
SKILL.md

GATK CNV Workflow

Somatic CNV Workflow Overview

1. PreprocessIntervals → intervals.interval_list
2. CollectReadCounts → sample.counts.hdf5
3. CreateReadCountPanelOfNormals → pon.hdf5
4. DenoiseReadCounts → sample.denoised.tsv
5. CollectAllelicCounts → sample.allelicCounts.tsv
6. ModelSegments → sample.modelFinal.seg
7. CallCopyRatioSegments → sample.called.seg

Step 1: Preprocess Intervals

Installs
3
GitHub Stars
1.1K
First Seen
Jan 24, 2026
bio-copy-number-gatk-cnv — gptomics/bioskills