数据与复现生物信息与基因组学FreedomIntelligence/OpenClaw-Medical-Skills数据与复现
BI

bio-workflows-cnv-pipeline

维护者 FreedomIntelligence · 最近更新 2026年4月1日

Copy number variant detection: WGS/WES CNV calling and annotation.

OpenClawNanoClaw分析处理复现实验bio-workflows-cnv-pipeline🧠 bioos extended suitebioos extended bioinformatics suitecopy

原始来源

FreedomIntelligence/OpenClaw-Medical-Skills

https://github.com/FreedomIntelligence/OpenClaw-Medical-Skills/tree/main/skills/bio-workflows-cnv-pipeline

维护者
FreedomIntelligence
许可
MIT
最近更新
2026年4月1日

技能摘要

来自 SKILL.md 的关键信息

2 min

核心说明

  • Complete workflow ,用于 detecting copy number variants ,面向 exome 或 targeted sequencing data。
  • cnvkit.py target capture_targets.bed \ --annotate refFlat.txt \ --split \ -o targets.bed。

原始文档

SKILL.md 摘录

Access regions (off-target for WGS-like sensitivity)

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

From normal samples

cnvkit.py reference
coverage/normal*.targetcoverage.cnn
coverage/normal*.antitargetcoverage.cnn
--fasta genome.fa
-o reference.cnn

适用场景

  • Use bio-workflows-cnv-pipeline ,用于 genomics 、 bioinformatics workflows。
  • Apply bio-workflows-cnv-pipeline to sequencing,variant,或 omics analysis tasks。

不适用场景

  • Do not rely on this catalog entry alone ,用于 installation 或 maintenance details。

上游相关技能

  • copy-number/cnvkit-analysis - CNVkit details
  • copy-number/cnv-visualization - Plotting options
  • copy-number/cnv-annotation - Gene annotations
  • copy-number/gatk-cnv - GATK alternative

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