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tpmi-phewas-skill

Look up TPMI associations for a single genetic variant using an rsID or genome coordinates. Get a concise summary showing the queried variant, the total number of associations, and whether the displayed results are incomplete.

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원문원문 설명 보기

Fetch compact TPMI PheWAS summaries for single variants by accepting rsID, GRCh37, or GRCh38 input and resolving to the required GRCh38 query. Use when a user wants concise TPMI association results for one variant

설치 방법 보기

이럴 때 유용합니다

  • Check TPMI associations for a variant identified by rsID
  • Look up a variant using GRCh37 genome coordinates
  • Save the full association response to a file

포함된 파일(4)

  • SKILL.md2.3 KB
  • agents/openai.yaml95 B
  • scripts/tpmi_phewas.py7.4 KB
  • scripts/variant_resolution.py11.9 KB

SKILL.md(원문)

설치하기 전에 에이전트에게 전달되는 지시 내용을 확인할 수 있습니다.

Operating rules

  • Use scripts/tpmi_phewas.py for all TPMI PheWAS lookups.
  • Accept exactly one of rsid, grch37, grch38, or variant; resolve to the canonical GRCh38 chr:pos-ref-alt query before calling TPMI.
  • 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, and whether the results were truncated.
  • 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":"6:160540105-T-C","max_results":10}
    • {"grch37":"6:162447146-T-C","max_results":10}
    • {"rsid":"rs9273363","max_results":10}
    • {"variant":"6:160540105:T:C","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, 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":"6:160540105-T-C","max_results":10}' | python scripts/tpmi_phewas.py

References

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

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