tooluniverse-multiomic-disease-characterization

Provide a disease name, OMIM ID, EFO ID, or MONDO ID and the pipeline runs 9 phases from disease disambiguation through report finalization. You can optionally specify a tissue of interest or focus on specific omics layers such as genomics or pathways.

It queries OpenTargets, GWAS Catalog, ClinVar, gnomAD, GTEx, Human Protein Atlas, Expression Atlas, STRING, IntAct, HumanBase, Reactome, KEGG, WikiPathways, Enrichr, QuickGO, DGIdb, and ClinicalTrials.gov through ToolUniverse tools.

The score sums up to 100 points across data availability per omics layer (40 points), cross-layer evidence concordance (40 points), and evidence quality such as GWAS significance and approved drugs (20 points). Scores of 80-100 indicate comprehensive coverage.

Use other skills for single gene or target validation, drug safety profiling, variant interpretation, GWAS-specific analysis, or pathway-only enrichment. This skill is intended for integrated cross-layer disease deep-dives, not single-layer questions.

For rare or monogenic diseases the pipeline falls back to ClinVar variants, OpenTargets genetic evidence, and individual gene expression lookups. Missing layers are marked as no data available and the confidence score is adjusted downward accordingly.