Agent skill

Gwas Catalog

by exon-research in exon-research/genomi

Compare candidate rsIDs against GWAS Catalog phenotype associations.

Apache-2.0Auto-check passedResearch & Science

Install Gwas Catalog

skills CLI
$ npx skills add exon-research/genomi --skill gwas-catalog -a claude-code

Project install by default; add -g for ~/.claude/skills/.

GitHub CLI
$ gh skill install exon-research/genomi gwas-catalog --agent claude-code

Project scope by default; add --scope user for a personal install. Needs GitHub CLI 2.90.0 or later (public preview).

Manual copy
$ git clone --depth 1 https://github.com/exon-research/genomi.git skills-src && mkdir -p .claude/skills && cp -r skills-src/skills/gwas-catalog .claude/skills/gwas-catalog && rm -rf skills-src

Use ~/.claude/skills/ instead of .claude/skills for a personal install. The folder must contain SKILL.md.

Claude Code skills documentation · loads skills from .claude/skills/

Facts

Skill name
gwas-catalog
GitHub stars
484
Token cost
~1.4k tokens
SKILL.md length
595 words
Files
1
Skills in repo
20
Repo updated
First seen
Licence
Apache-2.0

At a glance

Compare candidate rsIDs against GWAS Catalog phenotype associations.

  • Research & Science work in your project
  • SKILL.md covers Goal, Cross-Capability Synthesis, Tools and Boundary, plus 1 more section
  • Instructions only: no scripts, shell commands, URLs or credentials in SKILL.md

What it does

Gwas Catalog is an agent skill from exon-research/genomi. Compare candidate rsIDs against GWAS Catalog phenotype associations. Use association evidence with source and ancestry limitations.

Its SKILL.md is about 1.4k tokens, which your agent loads only when the skill is triggered. It is a single SKILL.md file with no bundled scripts.

It sits in Research & Science. The repository describes itself as: Local-first, open-source Claude Science alternative, before Claude Science is a thing. Turn your AI agent into personal DNA expert. The licence is Apache-2.0.

When your agent uses it

  • Research & Science work in your project

Example prompts

  • “/gwas-catalog”

What it can do on your machine

Read from SKILL.md and the folder at commit 1df4f5b. It shows what the files ask for, not the result of running them.

  • Tool permissions

    Pre-approves nothing: there is no allowed-tools line, so your agent's usual permission prompts apply.

    From allowed-tools in the SKILL.md frontmatter.

  • Runs code

    No scripts in the folder and no shell commands in SKILL.md.

    From the folder's file list and the shell code blocks in SKILL.md.

  • Network

    No URLs in SKILL.md.

    From URLs in SKILL.md, links to its own repository left out.

  • Credentials

    Names no API keys, tokens, secrets or passwords.

    From names ending in _API_KEY, _TOKEN, _SECRET, _KEY or _PASSWORD in SKILL.md.

Context cost

Gwas Catalog loads about 1.4k tokens when it runs. Until then it costs about 36 tokens; SKILL.md has 595 words of instructions outside code blocks.

Always · name and description, kept in context so the agent knows when to use it
~36
When it runs · the whole SKILL.md, loaded when a task matches
~1.4k

Estimates: characters ÷ 4, the usual rule of thumb; real counts depend on the model's tokenizer. Scripts and assets cost tokens only if the agent reads them.

Safety

Auto-check passed

The automated check found no risky patterns in SKILL.md.

Automated static check — not a guarantee. Review scripts before installing. It scans the text of SKILL.md for risky patterns (piping downloads into a shell, reading credential files, hidden Unicode, destructive commands); files beside SKILL.md are not scanned.

SKILL.md

The full file from exon-research/genomi at commit 1df4f5b, republished under its Apache-2.0 licence (© exon-research). 595 words, ~1,365 tokens.

Download SKILL.mdSave it as .claude/skills/gwas-catalog/SKILL.md (or your agent's skills folder).
name
gwas-catalog
description
Compare candidate rsIDs against GWAS Catalog phenotype associations. Use association evidence with source and ancestry limitations.
tools
gwas.compare_variant_associations, gwas.compare_gene_associations, phenotype.retrieve_trait_gene_records, variant.resolve…
mutating
true

GWAS Catalog Association Evidence

Use GWAS Catalog association records for supplied phenotypes plus candidate variants or genes.

For phenotype plus candidate genes, gwas.compare_gene_associations returns GWAS Catalog reported_gene, mapped_gene, or source gene-field association evidence. phenotype.retrieve_trait_gene_records retrieves native trait-to-gene records from integrated public sources, optionally filtered by gene. If another source prior is relevant, call that source-specific tool separately and keep the evidence regimes separate. HPO or single-subject phenotype matching belongs outside this skill.

Goal

Retrieve and compare GWAS Catalog association evidence with explicit source-field and phenotype-match limitations. Personal interpretation requires separate sample support and careful wording.

Convention: See skills/conventions/evidence-quality.md.

Cross-Capability Synthesis

A scope-limited result from this capability is not a final user-facing answer when other Genomi capabilities can contribute orthogonal evidence to the same question. Returning "cannot answer" while applicable capabilities remain unexamined is a host-agent failure mode.

Tools

gwas.compare_gene_associations

Compare candidate genes using GWAS Catalog reported_gene and mapped_gene trait-association evidence.

Use when: The user gives a phenotype or trait plus candidate genes and asks for GWAS Catalog gene-field association support.

Why necessary: GWAS Catalog gene fields are source annotations for population-trait associations; they should stay separate from causal-gene, HPO, or drug-target evidence.

Not for: causal-gene claims unless separate causal evidence is supplied.

Result semantics: Returns source-local GWAS Catalog gene-field association evidence only. reported_gene and mapped_gene are source annotations and are not causal-gene evidence. Causal-gene or effector-gene wording returns wrong_evidence_regime with a routing hint.

gwas.compare_variant_associations

Compare candidate rsIDs by population-trait GWAS Catalog association evidence.

Use when: Returns GWAS Catalog population-trait association records for candidate rsIDs, ranked by trait match and p-value.

Why necessary: Population-trait rsID ranking needs GWAS Catalog evidence, not ClinVar or personal genotype evidence.

Not for: clinical disease diagnosis or personal genotype support.

Example prompts: Compare these rsIDs for LDL cholesterol GWAS evidence.

Result semantics: Returns public GWAS association evidence rows ranked by source trait match and p-value. For population-trait lead-variant tasks, GWAS Catalog evidence rows are the ranking source. Personal interpretation uses separate sample genotype evidence tools only after the source-ranked rsID decision.

Show full SKILL.md (260 more words)Show less

Boundary

GWAS prioritization answers “which candidate has public association support for this phenotype?” Personal risk interpretation requires sample support, phenotype context, ancestry/source limitations, and careful claim wording.

For phenotype-plus-rsID questions, call gwas.compare_variant_associations directly. If personal context exists, choose follow-up rsIDs from the returned association evidence before checking sample support. Keep ClinVar, Mendelian, sample genotype, same-gene, or pathway context as follow-up context beside the GWAS Catalog population-trait ranking.

For phenotype-plus-gene-list questions, call gwas.compare_gene_associations only when GWAS Catalog reported_gene/mapped_gene/source gene-field association is the intended prior. If a trait-to-gene source record is needed, retrieve native trait-to-gene records with phenotype.retrieve_trait_gene_records. If it returns only association_only_not_causal records, do not answer from those records alone. Call separate source-specific tools when drug-target, curated association, or locus-to-gene evidence also matters; do not collapse those priors into the GWAS Catalog association result. HPO or single-subject phenotype matching belongs to phenotype.compare_gene_hpo_evidence.

For GWAS variant prioritization, exact GWAS Catalog trait matches outrank nearby trait matches. P-value breaks ties inside the same evidence level; ClinVar, Mendelian disease, same-gene, pathway, or sample context does not rerank the population-trait lead-variant result.

Routing Checks

  • Present GWAS associations as association evidence.
  • Preserve ancestry/source limitations.
  • Check whether the selected rsID is present in the Active Genome Index before personal interpretation.
  • Preserve which phenotype/query produced the ranking.
  • Prefer direct GWAS Catalog records over inferring a winner from prose.
  • Treat variant.resolve as context-only follow-up after the GWAS source ranking is chosen.
  • Interpret GWAS Catalog mapped_genes as source gene-field association context, not causal-gene evidence.
  • If the selected candidate is not direct-source supported, say the result is lower-support adjacent GWAS evidence.

© exon-research, Apache-2.0. Rendered from Markdown: HTML in the file is shown as text, images as links, and headings moved down two levels. Raw file

Files

Just SKILL.md in skills/gwas-catalog of exon-research/genomi.

Open the folder on GitHubat commit 1df4f5b

Compare with similar skills

Gwas Catalog next to the 5 skills that share the most tags, products or categories with it. Stars are the repository's; “used in” counts other GitHub owners with a copy.

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Questions about Gwas Catalog

What does Gwas Catalog do?

Compare candidate rsIDs against GWAS Catalog phenotype associations. Gwas Catalog is an agent skill from exon-research/genomi. Compare candidate rsIDs against GWAS Catalog phenotype associations.

When should I use Gwas Catalog?

Gwas Catalog fits situations like: research & Science work in your project.

How do I install Gwas Catalog in Claude Code?

Run `npx skills add exon-research/genomi --skill gwas-catalog -a claude-code`. Or copy the skill folder (skills/gwas-catalog in exon-research/genomi) into .claude/skills/gwas-catalog in your project. Claude Code loads it when a task matches its description.

How do I install Gwas Catalog in Codex?

Run `npx skills add exon-research/genomi --skill gwas-catalog -a codex`. Or copy the skill folder (skills/gwas-catalog in exon-research/genomi) into .agents/skills/gwas-catalog in your project. Codex loads it when a task matches its description.

Can I use Gwas Catalog in Cursor, Gemini CLI or GitHub Copilot?

Cursor, Gemini CLI, GitHub Copilot and OpenCode also load SKILL.md folders. With the skills CLI, run `npx skills add exon-research/genomi --skill gwas-catalog -a cursor` (or -a gemini-cli, github-copilot or opencode for the others). To copy it by hand, put the folder in .cursor/skills/gwas-catalog, .gemini/skills/gwas-catalog, .github/skills/gwas-catalog and .opencode/skills/gwas-catalog in your project.

What does Gwas Catalog need to run?

SKILL.md names no scripts, command-line tools or credentials: Gwas Catalog is instructions for the agent only.

Does Gwas Catalog access the network?

SKILL.md contains no URLs. Any network use would come from the scripts or tools the agent runs. This is read from the text; nothing was executed.

Is Gwas Catalog safe to install?

Our automated static check of SKILL.md found no risky patterns, such as piping downloads into a shell, reading credential files or hidden Unicode. It is not a guarantee. Review the folder before installing.

What licence does Gwas Catalog use?

Gwas Catalog is published under the Apache-2.0 licence (the repository's licence). It allows redistribution, so the full SKILL.md is shown on this page.

How many tokens does Gwas Catalog use?

About 1.4k tokens (SKILL.md is roughly 5.5k characters). Agents keep only the skill's name and description in context until a task matches; then they load SKILL.md in full.

What are the alternatives to Gwas Catalog?

Skills that share tags, products or a category with Gwas Catalog: Hypothesis Generation (spacering-net/codeg, 3.9k stars), GitHub Deep Research (bytedance/deer-flow, 84k stars), Nature Paper Card (Yuan1z0825/nature-skills, 47k stars) and Content Research Writer (weapp-tailwindcss/weapp-tailwindcss, 1.9k stars). The comparison table on this page puts their stars, adoption, token cost, safety result and licence side by side.

Who maintains Gwas Catalog?

exon-research (a GitHub organization) maintains it in exon-research/genomi, which has 484 GitHub stars. The repository holds 20 skills in this directory. The repository was last updated on August 31, 2026.

Source: exon-research/genomi on GitHub. Facts on this page come from the repository at the commit we read; the author's words are quoted as theirs.