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数据与复现临床医学与医药FreedomIntelligence/OpenClaw-Medical-Skills数据与复现
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bio-copy-number-cnv-annotation

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

Annotate CNVs with genes, pathways, and clinical significance. Use when interpreting CNV calls or identifying affected genes from copy number analysis.

OpenClawNanoClaw分析处理复现实验bio-copy-number-cnv-annotation🧬 bioinformatics (gptomics bio-* suite)bioinformatics — clinical databases & variant analysisannotate

原始来源

FreedomIntelligence/OpenClaw-Medical-Skills

https://github.com/FreedomIntelligence/OpenClaw-Medical-Skills/tree/main/skills/bio-copy-number-cnv-annotation

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

  • CLI：bedtools intersect - cnvs.bed -b genes.bed。
  • Python：pybedtools.BedTool().intersect()。
  • Annotate my CNV calls ，支持 gene names" → Overlap CNV segments ，支持 gene annotations，clinical databases，、 pathway information to identify affected genes 、 assess clinical significance. CLI：bedtools intersect - cnvs.bed -b genes.bed Python：pybedtools.BedTool().intersect()。
  • awk 'NR>1 {print $1"\t"$2"\t"$3"\t"$5"\t"$6}' sample.cns > sample.cnv.bed。

原始文档

SKILL.md 摘录

Intersect with gene annotations

bedtools intersect -a sample.cnv.bed -b genes.bed -wa -wb > cnv_genes.txt

Get genes overlapping CNVs

bedtools intersect -a genes.bed -b sample.cnv.bed -u > affected_genes.bed


## Annotate during analysis

cnvkit.py batch tumor.bam --normal normal.bam \
    --targets targets.bed \
    --annotate refFlat.txt \
    --fasta reference.fa \
    -o results/

适用场景

  • 适合在interpreting CNV calls 或 identifying affected genes ，面向 copy number analysis时使用。

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 - Generate CNV calls
  • copy-number/cnv-visualization - Visualize annotated CNVs
  • pathway-analysis/go-enrichment - Enrichment of CNV genes
  • genome-intervals/bed-file-basics - BED file operations

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