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Rare disease genomics and gene discovery v1.0.0
Use this resource to prioritize variants and identify a causal gene for a rare disease
New
- 552 downloads
- 105 likes
- 118 saves
Free
Install with the CLI
In a terminal, from the folder you want:
npx --yes palatekit@latest install rare-disease-gene-discoveryWith no option, the skill goes to ~/.agents/skills/; add --agent claude-code (or codex, cursor…) to target an agent.
First time: connect the CLI with
npx --yes palatekit@latest loginThe agent follows the order phenotype, disease, gene, variant, links HPO phenotypes to diseases and filters variants down to a causal candidate. It computes results rather than describing them.
Mostly picked by
Updated November 2, 2026
Previews
Details
- Install guides
- Generates with
- Your agent's model
- Licence
- Apache-2.0
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What you get
- SKILL.md: investigation strategy and variant prioritization
- SKILL.md: disambiguation and HPO phenotype matching
Good fit for
- You are looking for the gene behind a rare clinical picture
- You are curating gene-disease validity for a team
Not for
Tags
- rare disease
- causal gene
- HPO
- variants
About
You say
“Which genes cause this rare clinical picture described in HPO terms?”
Skill published by mims-harvard under the Apache-2.0 license, delivered in its original version.
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How to use it
- Install the skill in your agent's skills folder
- Ask your agent to prioritize variants and identify a causal gene for a rare disease
- Review and adjust the result
Content preview
Files
- LICENSE11.1 KB
- NOTICE-PALATEKIT.md0.5 KB
- SKILL.md19.4 KB
Origin and licence
Listed unmodified
- Author
- mims-harvard
- Source
- github.com/mims-harvard/tooluniverse/tree/169d065deeb3e289b3ff36d665529a123bdad791/skills/tooluniverse-rare-disease-genomics
- Licence
- Apache-2.0
Notice
« tooluniverse-rare-disease-genomics » (mims-harvard, Apache-2.0) livré dans sa version d'origine : fiche en français et en anglais par PalateKit.
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