tooluniverse-disease-research by mims-harvard/tooluniverse
npx skills add https://github.com/mims-harvard/tooluniverse --skill tooluniverse-disease-research生成一份包含完整来源引用的全面疾病研究报告。该报告以 Markdown 文件形式创建,并在研究过程中逐步更新。
重要提示:在工具调用中始终使用英文疾病名称和搜索词。以用户的语言进行回复。
请勿向用户展示搜索过程。而是:
{disease_name}_research_report.md| 维度 | 章节 | 关键工具 |
|---|---|---|
| 1 | 身份与分类 | OSL_get_efo_id, ols_search/get_efo_terms, umls_search, icd_search, snomed_search |
| 2 |
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| 临床表现 |
| OpenTargets phenotypes, HPO lookup, MedlinePlus |
| 3 | 遗传与分子基础 | OpenTargets targets, ClinVar variants, GWAS associations, gnomAD |
| 4 | 治疗格局 | OpenTargets drugs, clinical trials, GtoPdb |
| 5 | 生物学通路 | Reactome pathways, HumanBase PPI, GTEx expression, HPA |
| 6 | 流行病学与文献 | PubMed, OpenAlex, Europe PMC, Semantic Scholar |
| 7 | 相似疾病 | OpenTargets similar entities |
| 8 | 癌症特异性信息(如适用) | CIViC genes/variants/therapies |
| 9 | 药理学 | GtoPdb targets/interactions/ligands |
| 10 | 药物安全性 | OpenTargets warnings, clinical trial AEs, FAERS |
参见:tool_usage_details.md 获取每个章节的完整工具调用。
在开始时创建此文件结构:
# 疾病研究报告:{Disease Name}
**报告生成时间**:{date}
**疾病标识符**:(待填写)
---
## 执行摘要
(简要的 3-5 句概述 - 在所有研究完成后填写)
---
## 1. 疾病身份与分类
### 本体标识符
| 系统 | ID | 来源 |
### 同义词与替代名称
### 疾病层级结构
---
## 2. 临床表现
### 表型(HPO)
| HPO ID | 表型 | 描述 | 来源 |
### 症状与体征
### 诊断标准
---
## 3. 遗传与分子基础
### 相关基因
| 基因 | 评分 | Ensembl ID | 证据 | 来源 |
### GWAS 关联
| SNP | P 值 | 比值比 | 研究 | 来源 |
### 致病性变异(ClinVar)
---
## 4. 治疗格局
### 获批药物
| 药物 | ChEMBL ID | 机制 | 阶段 | 靶点 | 来源 |
### 临床试验
| NCT ID | 标题 | 阶段 | 状态 | 来源 |
---
## 5. 生物学通路与机制
## 6. 流行病学与风险因素
## 7. 文献与研究活动
## 8. 相似疾病与共病
## 9. 癌症特异性信息(如适用)
## 10. 药物安全性与不良事件
---
## 参考文献
### 使用的工具
| # | 工具 | 参数 | 章节 | 检索到的项目数 |
每个数据点都必须包含其来源:
在表格中:添加一个带有工具名称的 Source 列
在列表中:- 发现 [来源: tool_name]
在正文中:(来源: tool_name, 查询: "...")
参考文献章节:包含参数的完整工具使用日志
# 在每个维度的研究之后:
# 1. 读取当前报告
# 2. 用格式化内容替换占位符
# 3. 立即写回
# 4. 继续下一个维度
对于一个研究充分的疾病(例如,阿尔茨海默病),最终报告应包含:
总计:500+ 个独立数据点,每个都有来源引用。
每周安装量
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安装于
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Generate a comprehensive disease research report with full source citations. The report is created as a markdown file and progressively updated during research.
IMPORTANT : Always use English disease names and search terms in tool calls. Respond in the user's language.
DO NOT show the search process to the user. Instead:
{disease_name}_research_report.md| Dim | Section | Key Tools |
|---|---|---|
| 1 | Identity & Classification | OSL_get_efo_id, ols_search/get_efo_terms, umls_search, icd_search, snomed_search |
| 2 | Clinical Presentation | OpenTargets phenotypes, HPO lookup, MedlinePlus |
| 3 | Genetic & Molecular Basis | OpenTargets targets, ClinVar variants, GWAS associations, gnomAD |
| 4 | Treatment Landscape | OpenTargets drugs, clinical trials, GtoPdb |
| 5 | Biological Pathways | Reactome pathways, HumanBase PPI, GTEx expression, HPA |
| 6 | Epidemiology & Literature | PubMed, OpenAlex, Europe PMC, Semantic Scholar |
| 7 | Similar Diseases | OpenTargets similar entities |
| 8 | Cancer-Specific (if applicable) | CIViC genes/variants/therapies |
| 9 | Pharmacology | GtoPdb targets/interactions/ligands |
| 10 | Drug Safety | OpenTargets warnings, clinical trial AEs, FAERS |
See: tool_usage_details.md for complete tool calls per section.
Create this file structure at the start:
# Disease Research Report: {Disease Name}
**Report Generated**: {date}
**Disease Identifiers**: (to be filled)
---
## Executive Summary
(Brief 3-5 sentence overview - fill after all research complete)
---
## 1. Disease Identity & Classification
### Ontology Identifiers
| System | ID | Source |
### Synonyms & Alternative Names
### Disease Hierarchy
---
## 2. Clinical Presentation
### Phenotypes (HPO)
| HPO ID | Phenotype | Description | Source |
### Symptoms & Signs
### Diagnostic Criteria
---
## 3. Genetic & Molecular Basis
### Associated Genes
| Gene | Score | Ensembl ID | Evidence | Source |
### GWAS Associations
| SNP | P-value | Odds Ratio | Study | Source |
### Pathogenic Variants (ClinVar)
---
## 4. Treatment Landscape
### Approved Drugs
| Drug | ChEMBL ID | Mechanism | Phase | Target | Source |
### Clinical Trials
| NCT ID | Title | Phase | Status | Source |
---
## 5. Biological Pathways & Mechanisms
## 6. Epidemiology & Risk Factors
## 7. Literature & Research Activity
## 8. Similar Diseases & Comorbidities
## 9. Cancer-Specific Information (if applicable)
## 10. Drug Safety & Adverse Events
---
## References
### Tools Used
| # | Tool | Parameters | Section | Items Retrieved |
Every piece of data MUST include its source:
In tables : Add a Source column with tool name In lists : - Finding [Source: tool_name] In prose : (Source: tool_name, query: "...") References section : Complete tool usage log with parameters
# After each dimension's research:
# 1. Read current report
# 2. Replace placeholder with formatted content
# 3. Write back immediately
# 4. Continue to next dimension
For a well-studied disease (e.g., Alzheimer's), the final report should include:
Total: 500+ individual data points, each with source citation.
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