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数据与复现
BI
bio-clinical-databases-variant-prioritization
维护者 FreedomIntelligence · 最近更新 2026年4月1日
Filter and prioritize variants by pathogenicity, population frequency, and clinical evidence for rare disease analysis. Use when identifying candidate disease-causing variants from exome or genome sequencing.
原始来源
FreedomIntelligence/OpenClaw-Medical-Skills
https://github.com/FreedomIntelligence/OpenClaw-Medical-Skills/tree/main/skills/bio-clinical-databases-variant-prioritization
- 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
- Python：pandas ，用于 multi-criteria filtering ，支持 ACMG/AMP 分类 logic。
- Prioritize candidate disease variants ，面向 my exome data" → Filter 、 rank variants by pathogenicity scores，population frequency，inheritance pattern，、 clinical evidence to identify candidate disease-causing mutations. Python：pandas ，用于 multi-criteria filtering ，支持 ACMG/AMP 分类 logic。
- Goal：Filter variants to retain rare，potentially pathogenic candidates ，用于 rare disease analysis。
- Approach：Apply gnomAD population frequency 、 ClinVar significance filters，retaining pathogenic，VUS，、 unannotated variants。
原始文档
SKILL.md 摘录
ACMG-Style Filtering
Goal: Score variants using ACMG-style evidence criteria for pathogenicity assessment.
Approach: Evaluate PM2 (population rarity) and PVS1 (loss-of-function) evidence, then compute a weighted priority score.
Multi-Database Prioritization
Goal: Prioritize variants using aggregated evidence from ClinVar, gnomAD, CADD, and REVEL in a single query.
Approach: Fetch annotations via myvariant.info, then compute a composite priority score weighting clinical, population, and computational evidence.
Inheritance-Based Filtering
Goal: Filter variants by expected inheritance pattern (autosomal dominant, recessive, or X-linked).
Approach: Select heterozygous ultra-rare variants for AD, or homozygous plus compound heterozygous candidates for AR.
适用场景
- 适合在identifying candidate disease-causing variants ，面向 exome 或 genome sequencing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
- clinvar-lookup - ClinVar pathogenicity queries
- gnomad-frequencies - Population frequency filtering
- variant-calling/clinical-interpretation - ACMG classification
- variant-calling/filtering-best-practices - Quality filtering
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