AA
AAV vector design: capsid selection, promoter optimization, payload capacity.
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数据与复现
VA
variant-interpretation-acmg
维护者 FreedomIntelligence · 最近更新 2026年4月1日
ACMG/AMP variant interpretation with evidence-based classification framework.
原始来源
FreedomIntelligence/OpenClaw-Medical-Skills
https://github.com/FreedomIntelligence/OpenClaw-Medical-Skills/tree/main/skills/variant-interpretation-acmg
- 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
核心说明
- Variant Interpretation Skill automates 分类 of genetic variants (Pathogenic，Benign，VUS) ，使用 rules-based engine derived ，面向 ACMG guidelines。
- When analyzing VCF file ，用于 clinical reporting。
- To determine clinical significance of specific mutation (e.g.，BRCA1 c.123A>G)。
- To aggregate evidence (population freq，computational predictions) into final verdict。
- When analyzing VCF file ，用于 clinical reporting. To determine clinical significance of specific mutation (e.g.，BRCA1 c.123A>G). * To aggregate evidence (population freq，computational predictions) into final verdict。
原始文档
SKILL.md 摘录
Core Capabilities
- Rule Scoring: Applies codes like PVS1 (Null variant), PM2 (Rare), PP3 (In silico).
- Classification: Combines scores to reach a verdict (Pathogenic, Likely Pathogenic, VUS, etc.).
- Explanation: Provides the logic/evidence used for the classification.
Workflow
- Input: Variant details (Gene, HGVS, Consequence) or Evidence codes directly.
- Process: Sums weights of applied ACMG criteria.
- Output: Final classification and score breakdown.
Example Usage
User: "Classify a variant with evidence PVS1 and PM2."
Agent Action:
适用场景
- Use variant-interpretation-acmg ，用于 medicinal chemistry 、 drug-discovery work。
- Apply variant-interpretation-acmg to compound，target，或 screening workflows。
不适用场景
- Do not rely on this catalog entry alone ，用于 installation 或 maintenance details。
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