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tooluniverse-gwas-finemapping
维护者 FreedomIntelligence · 最近更新 2026年4月1日
tooluniverse-gwas-finemapping：Genome-wide association studies (GWAS) identify genomic regions associated ，支持 traits，but linkage disequilibrium (LD) makes it difficult to pinpoint causal variant。 **Fine-mapping** uses Bayesian statistical methods to compute posterior probability that each variant is causal，given GWAS summary statistics。
原始来源
FreedomIntelligence/OpenClaw-Medical-Skills
https://github.com/FreedomIntelligence/OpenClaw-Medical-Skills/tree/main/skills/tooluniverse-gwas-finemapping
- 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
- Identify 、 prioritize causal variants at GWAS loci ，使用 statistical fine-mapping 、 locus-to-gene predictions。
- Prioritize causal variants ，使用 fine-mapping posterior probabilities。
- Link variants to genes ，使用 locus-to-gene (L2G) predictions。
- Annotate variants ，支持 functional consequences。
- Suggest validation strategies based on fine-mapping results。
原始文档
SKILL.md 摘录
Credible Sets
A credible set is a minimal set of variants that contains the causal variant with high confidence (typically 95% or 99%). Each variant in the set has a posterior probability of being causal, computed using methods like:
- SuSiE (Sum of Single Effects)
- FINEMAP (Bayesian fine-mapping)
- PAINTOR (Probabilistic Annotation INtegraTOR)
Posterior Probability
The probability that a specific variant is causal, given the GWAS data and LD structure. Higher posterior probability = more likely to be causal.
Locus-to-Gene (L2G) Predictions
L2G scores integrate multiple data types to predict which gene is affected by a variant:
- Distance to gene (closer = higher score)
- eQTL evidence (expression changes)
- Chromatin interactions (Hi-C, promoter capture)
- Functional annotations (coding variants, regulatory regions)
L2G scores range from 0 to 1, with higher scores indicating stronger gene-variant links.
适用场景
- 适合在asked to fine-map GWAS loci，prioritize causal variants，identify credible sets，或 link GWAS signals to causal genes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
- tooluniverse-gwas-explorer: Broader GWAS analysis
- tooluniverse-eqtl-colocalization: Link variants to gene expression
- tooluniverse-gene-prioritization: Systematic gene ranking
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