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维护者 FreedomIntelligence · 最近更新 2026年4月1日
Copy number variant detection: WGS/WES CNV calling and annotation.
原始来源
https://github.com/FreedomIntelligence/OpenClaw-Medical-Skills/tree/main/skills/bio-workflows-cnv-pipeline
技能摘要
原始文档
cnvkit.py access genome.fa
-o access.bed
cnvkit.py antitarget targets.bed
--access access.bed
-o antitargets.bed
## For each sample
for bam in *.bam; do
sample=$(basename $bam .bam)
# Target coverage
cnvkit.py coverage $bam targets.bed \
-o coverage/${sample}.targetcoverage.cnn
# Antitarget coverage
cnvkit.py coverage $bam antitargets.bed \
-o coverage/${sample}.antitargetcoverage.cnn
done
cnvkit.py reference
coverage/normal*.targetcoverage.cnn
coverage/normal*.antitargetcoverage.cnn
--fasta genome.fa
-o reference.cnn
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