finngen-phewas-skill

作者: openai

通过接受rsID、GRCh37或GRCh38输入并解析为所需的GRCh38查询,获取单个变体的紧凑型FinnGen PheWAS摘要。当需要…时使用。

npx skills add https://github.com/openai/plugins --skill finngen-phewas-skill

Operating rules

  • Use scripts/finngen_phewas.py for all FinnGen PheWAS lookups.
  • Accept exactly one of rsid, grch37, grch38, or variant; resolve to the canonical GRCh38 chr:pos-ref-alt query before calling FinnGen.
  • The script accepts max_results; start with max_results=10 and only increase it if the first slice is insufficient.
  • Re-run the lookup in long conversations instead of relying on older tool output.
  • Treat displayed ... in tool previews as UI truncation, not literal request content.
  • If the user needs the full association payload, set save_raw=true and report raw_output_path instead of pasting large arrays into chat.

Execution behavior

  • Return concise markdown summaries from the script JSON by default.
  • Return the JSON verbatim only if the user explicitly asks for machine-readable output.
  • Surface the canonical queried variant, total association count, truncation status, and any returned regions.
  • Increase max_results gradually instead of asking for large association dumps in one call.

Input

  • Read one JSON object from stdin, or a single JSON string containing the variant.
  • Required input: exactly one of rsid, grch37, grch38, or variant
  • Optional fields: max_results, save_raw, raw_output_path, timeout_sec
  • Common patterns:
    • {"grch38":"10:112998590-C-T","max_results":10}
    • {"grch37":"10:114758349-C-T","max_results":10}
    • {"rsid":"rs7903146","max_results":10}
    • {"variant":"10:112998590:C:T","max_results":25,"save_raw":true}

Output

  • Success returns ok, source, input, query_variant, max_results_applied, association_count, association_count_total, truncated, associations, variant, regions, variant_url, raw_output_path, and warnings.
  • Use raw_output_path when save_raw=true.
  • Failure returns ok=false with error.code and error.message.

Execution

echo '{"grch38":"10:112998590-C-T","max_results":10}' | python scripts/finngen_phewas.py

References

  • No additional runtime references are required; keep the import package limited to this file and scripts/finngen_phewas.py.

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