298 lines
7.7 KiB
Markdown
298 lines
7.7 KiB
Markdown
---
|
|
title: "Multi-Omics Disease Characterization Report Template"
|
|
task: ""
|
|
lineage_type: import
|
|
upstream_source: https://github.com/mims-harvard/ToolUniverse/blob/e2520a96/skills/tooluniverse-multiomic-disease-characterization/report-template.md
|
|
upstream_sha: e2520a96
|
|
imported_at: 2026-06-26
|
|
prompt_class: prompt
|
|
upstream_changes: accepted
|
|
author: upstream
|
|
validated: false
|
|
---
|
|
|
|
# Multi-Omics Disease Characterization Report Template
|
|
|
|
Create this file at the start: `{disease_name}_multiomic_report.md`
|
|
|
|
```markdown
|
|
# Multi-Omics Disease Characterization: {Disease Name}
|
|
|
|
**Report Generated**: {date}
|
|
**Disease Identifiers**: (to be filled)
|
|
**Multi-Omics Confidence Score**: (to be calculated)
|
|
|
|
---
|
|
|
|
## Executive Summary
|
|
|
|
(2-3 sentence disease mechanism synthesis - fill after all layers complete)
|
|
|
|
---
|
|
|
|
## 1. Disease Definition & Context
|
|
|
|
### Disease Identifiers
|
|
| System | ID | Source |
|
|
|--------|-----|--------|
|
|
|
|
### Description
|
|
### Synonyms
|
|
### Disease Hierarchy (parents/children)
|
|
### Affected Tissues/Organs
|
|
### Therapeutic Areas
|
|
|
|
**Sources**: (tools used)
|
|
|
|
---
|
|
|
|
## 2. Genomics Layer
|
|
|
|
### 2.1 GWAS Associations
|
|
| SNP | P-value | Effect | Gene | Study | Source |
|
|
|-----|---------|--------|------|-------|--------|
|
|
|
|
### 2.2 GWAS Studies Summary
|
|
| Study ID | Trait | Sample Size | Year | Source |
|
|
|----------|-------|-------------|------|--------|
|
|
|
|
### 2.3 Associated Genes (Genetic Evidence)
|
|
| Gene | Ensembl ID | Association Score | Evidence Type | Source |
|
|
|------|------------|-------------------|---------------|--------|
|
|
|
|
### 2.4 Rare Variants (ClinVar)
|
|
| Variant | Gene | Clinical Significance | Source |
|
|
|---------|------|-----------------------|--------|
|
|
|
|
### Genomics Layer Summary
|
|
- Total GWAS hits:
|
|
- Top genes by genetic evidence:
|
|
- Genetic architecture:
|
|
|
|
**Sources**: (tools used)
|
|
|
|
---
|
|
|
|
## 3. Transcriptomics Layer
|
|
|
|
### 3.1 Differential Expression Studies
|
|
| Experiment | Condition | Up-regulated | Down-regulated | Source |
|
|
|------------|-----------|--------------|----------------|--------|
|
|
|
|
### 3.2 Expression Atlas Disease Evidence
|
|
| Gene | Score | Source |
|
|
|------|-------|--------|
|
|
|
|
### 3.3 Tissue Expression Patterns (GTEx/HPA)
|
|
| Gene | Tissue | Expression Level | Source |
|
|
|------|--------|-----------------|--------|
|
|
|
|
### 3.4 Biomarker Candidates (Expression-Based)
|
|
| Gene | Tissue Specificity | Fold Change | Evidence | Source |
|
|
|------|-------------------|-------------|----------|--------|
|
|
|
|
### Transcriptomics Layer Summary
|
|
- Differential expression datasets:
|
|
- Top DEGs:
|
|
- Tissue-specific patterns:
|
|
|
|
**Sources**: (tools used)
|
|
|
|
---
|
|
|
|
## 4. Proteomics & Interaction Layer
|
|
|
|
### 4.1 Protein-Protein Interactions (STRING)
|
|
| Protein A | Protein B | Score | Source |
|
|
|-----------|-----------|-------|--------|
|
|
|
|
### 4.2 Hub Genes (Network Centrality)
|
|
| Gene | Degree | Betweenness | Role | Source |
|
|
|------|--------|-------------|------|--------|
|
|
|
|
### 4.3 Protein Complexes (IntAct)
|
|
| Complex | Members | Function | Source |
|
|
|---------|---------|----------|--------|
|
|
|
|
### 4.4 Tissue-Specific PPI Network
|
|
| Gene | Interaction Score | Tissue | Source |
|
|
|------|-------------------|--------|--------|
|
|
|
|
### Proteomics Layer Summary
|
|
- Total PPIs:
|
|
- Hub genes:
|
|
- Network modules:
|
|
|
|
**Sources**: (tools used)
|
|
|
|
---
|
|
|
|
## 5. Pathway & Network Layer
|
|
|
|
### 5.1 Enriched Pathways (Enrichr/Reactome)
|
|
| Pathway | Database | P-value | Genes | Source |
|
|
|---------|----------|---------|-------|--------|
|
|
|
|
### 5.2 Reactome Pathway Details
|
|
| Pathway ID | Name | Genes Involved | Source |
|
|
|------------|------|----------------|--------|
|
|
|
|
### 5.3 KEGG Pathways
|
|
| Pathway ID | Name | Description | Source |
|
|
|------------|------|-------------|--------|
|
|
|
|
### 5.4 WikiPathways
|
|
| Pathway ID | Name | Organism | Source |
|
|
|------------|------|----------|--------|
|
|
|
|
### Pathway Layer Summary
|
|
- Top enriched pathways:
|
|
- Key pathway nodes:
|
|
- Cross-pathway connections:
|
|
|
|
**Sources**: (tools used)
|
|
|
|
---
|
|
|
|
## 6. Gene Ontology & Functional Annotation
|
|
|
|
### 6.1 Biological Processes
|
|
| GO Term | Name | P-value | Genes | Source |
|
|
|---------|------|---------|-------|--------|
|
|
|
|
### 6.2 Molecular Functions
|
|
| GO Term | Name | P-value | Genes | Source |
|
|
|---------|------|---------|-------|--------|
|
|
|
|
### 6.3 Cellular Components
|
|
| GO Term | Name | P-value | Genes | Source |
|
|
|---------|------|---------|-------|--------|
|
|
|
|
**Sources**: (tools used)
|
|
|
|
---
|
|
|
|
## 7. Therapeutic Landscape
|
|
|
|
### 7.1 Approved Drugs
|
|
| Drug | ChEMBL ID | Mechanism | Target | Phase | Source |
|
|
|------|-----------|-----------|--------|-------|--------|
|
|
|
|
### 7.2 Druggable Targets
|
|
| Gene | Tractability | Modality | Clinical Precedent | Source |
|
|
|------|-------------|----------|-------------------|--------|
|
|
|
|
### 7.3 Drug Repurposing Candidates
|
|
| Drug | Original Indication | Mechanism | Target | Source |
|
|
|------|---------------------|-----------|--------|--------|
|
|
|
|
### 7.4 Clinical Trials
|
|
| NCT ID | Title | Phase | Status | Intervention | Source |
|
|
|--------|-------|-------|--------|--------------|--------|
|
|
|
|
### Therapeutic Summary
|
|
- Approved drugs:
|
|
- Clinical pipeline:
|
|
- Novel targets:
|
|
|
|
**Sources**: (tools used)
|
|
|
|
---
|
|
|
|
## 8. Multi-Omics Integration
|
|
|
|
### 8.1 Cross-Layer Gene Concordance
|
|
| Gene | Genomics | Transcriptomics | Proteomics | Pathways | Layers | Evidence Tier |
|
|
|------|----------|-----------------|------------|----------|--------|---------------|
|
|
|
|
### 8.2 Multi-Omics Hub Genes (Top 20)
|
|
| Rank | Gene | Layers Found | Key Evidence | Druggable | Source |
|
|
|------|------|-------------|--------------|-----------|--------|
|
|
|
|
### 8.3 Biomarker Candidates
|
|
| Biomarker | Type | Evidence Layers | Confidence | Source |
|
|
|-----------|------|-----------------|------------|--------|
|
|
|
|
### 8.4 Mechanistic Hypotheses
|
|
1. (Hypothesis with supporting evidence from multiple layers)
|
|
2. ...
|
|
|
|
### 8.5 Systems-Level Insights
|
|
- Key disrupted processes:
|
|
- Critical pathway nodes:
|
|
- Therapeutic intervention points:
|
|
- Testable hypotheses:
|
|
|
|
---
|
|
|
|
## Multi-Omics Confidence Score
|
|
|
|
| Component | Points | Max | Details |
|
|
|-----------|--------|-----|---------|
|
|
| Genomics data | | 10 | |
|
|
| Transcriptomics data | | 10 | |
|
|
| Protein data | | 5 | |
|
|
| Pathway data | | 10 | |
|
|
| Clinical data | | 5 | |
|
|
| Multi-layer genes | | 20 | |
|
|
| Direction concordance | | 10 | |
|
|
| Pathway-gene concordance | | 10 | |
|
|
| Genetic evidence quality | | 10 | |
|
|
| Clinical validation | | 10 | |
|
|
| **TOTAL** | | **100** | |
|
|
|
|
**Score**: XX/100 - [Tier]
|
|
|
|
---
|
|
|
|
## Data Availability Checklist
|
|
|
|
| Omics Layer | Data Available | Tools Used | Findings |
|
|
|-------------|---------------|------------|----------|
|
|
| Genomics (GWAS) | Yes/No | | |
|
|
| Genomics (Rare Variants) | Yes/No | | |
|
|
| Transcriptomics (DEGs) | Yes/No | | |
|
|
| Transcriptomics (Expression) | Yes/No | | |
|
|
| Proteomics (PPI) | Yes/No | | |
|
|
| Proteomics (Expression) | Yes/No | | |
|
|
| Pathways (Enrichment) | Yes/No | | |
|
|
| Pathways (KEGG/Reactome) | Yes/No | | |
|
|
| Gene Ontology | Yes/No | | |
|
|
| Drugs/Therapeutics | Yes/No | | |
|
|
| Clinical Trials | Yes/No | | |
|
|
| Literature | Yes/No | | |
|
|
|
|
---
|
|
|
|
## Completeness Checklist
|
|
|
|
- [ ] Disease disambiguation complete (IDs resolved)
|
|
- [ ] Genomics layer analyzed (GWAS + variants)
|
|
- [ ] Transcriptomics layer analyzed (DEGs + expression)
|
|
- [ ] Proteomics layer analyzed (PPI + interactions)
|
|
- [ ] Pathway layer analyzed (enrichment + mapping)
|
|
- [ ] Gene Ontology analyzed (BP + MF + CC)
|
|
- [ ] Therapeutic landscape analyzed (drugs + targets + trials)
|
|
- [ ] Cross-layer integration complete (concordance analysis)
|
|
- [ ] Multi-Omics Confidence Score calculated
|
|
- [ ] Biomarker candidates identified
|
|
- [ ] Hub genes identified
|
|
- [ ] Mechanistic hypotheses generated
|
|
- [ ] Executive summary written
|
|
- [ ] All sections have source citations
|
|
|
|
---
|
|
|
|
## References
|
|
|
|
### Data Sources Used
|
|
| # | Tool | Parameters | Section | Items Retrieved |
|
|
|---|------|------------|---------|-----------------|
|
|
|
|
### Database Versions
|
|
- OpenTargets: (current)
|
|
- GWAS Catalog: (current)
|
|
- STRING: (current)
|
|
- Reactome: (current)
|
|
```
|