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cnv-caller-agent

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

Specialized CNV detection agent integrating multiple callers with ensemble scoring.

OpenClawNanoClaw分析处理复现实验cnv-caller-agent🧠 bioos extended suitedrug discovery & designspecialized

原始来源

FreedomIntelligence/OpenClaw-Medical-Skills

https://github.com/FreedomIntelligence/OpenClaw-Medical-Skills/tree/main/skills/cnv-caller-agent

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

  • CNV Caller Agent provides comprehensive AI-enhanced copy number variation analysis ，面向 WGS，WES，、 targeted sequencing ，用于 cancer genomics 、 constitutional CNV detection。
  • When calling somatic CNVs ，面向 tumor-normal paired sequencing。
  • To detect constitutional CNVs ，面向 germline sequencing。
  • 用于 allele-specific copy number analysis。
  • When characterizing focal amplifications 、 deletions in cancer。

原始文档

SKILL.md 摘录

Core Capabilities

  1. Somatic CNV Calling: Detect tumor-specific copy number alterations.

  2. Germline CNV Detection: Identify constitutional CNVs for rare disease.

  3. Allele-Specific Analysis: Determine allele-specific copy number and LOH.

  4. Purity/Ploidy Estimation: Estimate tumor content and genome doubling.

  5. Focal Event Detection: Identify amplifications and deletions of driver genes.

  6. Segmentation Optimization: AI-enhanced breakpoint detection.

Workflow

  1. Input: BAM files (tumor/normal), or targeted panel data.

  2. Coverage Normalization: GC correction, mappability adjustment.

  3. Segmentation: Identify regions of consistent copy number.

  4. Allele-Specific: Calculate B-allele frequency for heterozygosity.

  5. Purity/Ploidy: Estimate sample parameters.

  6. Calling: Assign integer copy number states.

  7. Output: Segmented CNV calls, purity/ploidy, driver events.

Example Usage

User: "Call somatic copy number alterations from this tumor-normal WES pair."

Agent Action:

适用场景

  • When calling somatic CNVs ，面向 tumor-normal paired sequencing。
  • To detect constitutional CNVs ，面向 germline sequencing。
  • 用于 allele-specific copy number analysis。
  • When characteri。

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

  • Variant_Interpretation - For CNV annotation
  • HRD_Analysis_Agent - For HRD scoring from CNV
  • Pan_Cancer_MultiOmics_Agent - For pan-cancer CNV context

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