Individual skill
tooluniverse-rare-disease-genomics
Rare disease genomics — disease identification (Orphanet), causative gene discovery, gene-disease validity (GenCC), variant interpretation (ClinVar), and translational research (ClinicalTrials.gov, drug repurposing for orphans). Use for rare-disease-gene curation, novel-gene-discovery analysis, and rare-disease drug-development support.
skills/tooluniverse-rare-disease-genomics/SKILL.md
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## COMPUTE, DON'T DESCRIBE
When analysis requires computation (statistics, data processing, scoring, enrichment), write and run Python code via Bash. Don't describe what you would do — execute it and report actual results. Use ToolUniverse tools to retrieve data, then Python (pandas, scipy, statsmodels, matplotlib) to analyze it.
# Rare Disease Genomics Research
## Rare Disease Investigation Strategy
The order of investigation matters: **phenotype -> disease -> gene -> variant**, not the reverse. When starting from a gene, reverse it: gene -> diseases -> expected phenotypes -> does the patient match?
Resist the urge to skip to ClinVar immediately. A "Pathogenic" ClinVar entry is only meaningful if the gene is actually causative for the disease in question with the right inheritance mode.
## Variant Prioritization Reasoning (CRITICAL)
**LOOK UP DON'T GUESS** -- when uncertain about any gene, variant, or disease association, search the database. Do not rely on memory.