tooluniverse-disease-research

Generate comprehensive disease research reports using 100+ ToolUniverse tools. Creates a detailed markdown report file and progressively updates it with findings from 10 research dimensions. All information includes source references. Use when users ask about diseases, syndromes, or need systematic disease analysis.

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Install skill "tooluniverse-disease-research" with this command: npx skills add mims-harvard/tooluniverse/mims-harvard-tooluniverse-tooluniverse-disease-research

ToolUniverse Disease Research

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.


When to Use

  • User asks about any disease, syndrome, or medical condition
  • Needs comprehensive disease intelligence or a detailed research report
  • Asks "what do we know about [disease]?"

Core Workflow: Report-First Approach

DO NOT show the search process to the user. Instead:

  1. Create report file first - Initialize {disease_name}_research_report.md
  2. Research each dimension - Use all relevant tools
  3. Update report progressively - Write findings after each dimension
  4. Include citations - Every fact must reference its source tool

10 Research Dimensions

DimSectionKey Tools
1Identity & ClassificationOSL_get_efo_id, ols_search/get_efo_terms, umls_search, icd_search, snomed_search
2Clinical PresentationOpenTargets phenotypes, HPO lookup, MedlinePlus
3Genetic & Molecular BasisOpenTargets targets, ClinVar variants, GWAS associations, gnomAD
4Treatment LandscapeOpenTargets drugs, clinical trials, GtoPdb
5Biological PathwaysReactome pathways, HumanBase PPI, GTEx expression, HPA
6Epidemiology & LiteraturePubMed, OpenAlex, Europe PMC, Semantic Scholar
7Similar DiseasesOpenTargets similar entities
8Cancer-Specific (if applicable)CIViC genes/variants/therapies
9PharmacologyGtoPdb targets/interactions/ligands
10Drug SafetyOpenTargets warnings, clinical trial AEs, FAERS

See: tool_usage_details.md for complete tool calls per section.


Report Template

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 |

Citation Format

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


Progressive Update Pattern

# After each dimension's research:
# 1. Read current report
# 2. Replace placeholder with formatted content
# 3. Write back immediately
# 4. Continue to next dimension

Final Report Quality Checklist

  • All 10 sections have content (or marked "No data available")
  • Every data point has a source citation
  • Executive summary reflects key findings
  • References section lists all tools used
  • Tables properly formatted
  • No placeholder text remains

Expected Output Scale

For a well-studied disease (e.g., Alzheimer's), the final report should include:

  • 5+ ontology IDs, 10+ synonyms, disease hierarchy
  • 20+ phenotypes with HPO IDs
  • 50+ genes, 30+ GWAS associations, 100+ ClinVar variants
  • 20+ drugs, 50+ clinical trials
  • 10+ pathways, PPI network, expression data
  • 100+ publications
  • 15+ similar diseases
  • Drug warnings and adverse events

Total: 500+ individual data points, each with source citation.


Reference Files

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