数据与复现临床医学与医药FreedomIntelligence/OpenClaw-Medical-Skills数据与复现

tooluniverse-gwas-snp-interpretation

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

Interpret genetic variants (SNPs) from GWAS studies by aggregating evidence from multiple sources to provide comprehensive clinical and biological context. **Use Cases:** - "Interpret rs7903146" (TCF7L2 diabetes variant) - "What diseases is rs429358 associated with?" (APOE Al.

OpenClawNanoClaw分析处理复现实验tooluniverse-gwas-snp-interpretation🏥 medical & clinicalmedical toolsinterpret

原始来源

FreedomIntelligence/OpenClaw-Medical-Skills

https://github.com/FreedomIntelligence/OpenClaw-Medical-Skills/tree/main/skills/tooluniverse-gwas-snp-interpretation

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

Interpret rs7903146" (TCF7L2 diabetes variant)。
What diseases is rs429358 associated ，支持?" (APOE Alzheimer's variant)。
Clinical significance of rs1801133" (MTHFR variant)。
Is rs12913832 in any fine-mapped loci?" (Eye color variant)。
Interpret genetic variants (SNPs) ，面向 GWAS studies by aggregating evidence ，面向 multiple sources to provide comprehensive clinical 、 biological context。

原始文档

SKILL.md 摘录

GWAS Catalog (EMBL-EBI)

SNP annotations: Functional consequences, mapped genes, population frequencies
Associations: P-values, effect sizes, study metadata
Coverage: 350,000+ publications, 670,000+ associations

Open Targets Genetics

Fine-mapping: Statistical credible sets from SuSiE, FINEMAP methods
L2G predictions: Machine learning-based gene prioritization
Colocalization: QTL evidence for causal genes
Coverage: UK Biobank, FinnGen, and other large cohorts

Required

rs_id (str): dbSNP rs identifier
- Format: "rs" + number (e.g., "rs7903146")
- Must be valid rsID in GWAS Catalog

适用场景

适合在asked to interpret SNP by rsID，find disease associations ，用于 variant，assess clinical significance，或 answer questions like "What diseases is rs429358 associated ，支持?" 或 "Interpret rs7903146"时使用。