monarch-database
SolidMonarch Initiative knowledge graph REST API for disease-gene-phenotype associations and cross-species orthology. MONDO disease-to-gene/phenotype, HP phenotype profiles, cross-species comparisons. Use for rare disease gene prioritization and phenotype-based candidate ranking. For GWAS use gwas-database; for clinical pathogenicity use clinvar-database.
Install
Quality Score: 82/100
Skill Content
Details
- Author
- jaechang-hits
- Repository
- jaechang-hits/SciAgent-Skills
- Created
- 5 months ago
- Last Updated
- 4 days ago
- Language
- Python
- License
- NOASSERTION
Integrates with
Bundled in these plugins
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gnomad-database
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gwas-database
NHGRI-EBI GWAS Catalog REST API for SNP-trait associations from published GWAS. Query studies, associations, variants, traits, genes, summary stats. Build PRS candidates, analyze pleiotropy, fetch stats for Manhattan plots. No auth.
cbioportal-database
Cancer genomics (TCGA et al.) via cBioPortal REST API. Retrieve somatic mutations, CNAs, expression, clinical data (survival/stage/treatment) across thousands of studies. Use for TMB, oncoprints, survival analysis. For population frequencies use gnomad-database; for drug-gene interactions use opentargets-database.