--- name: ukb-topmed-phewas-skill description: Fetch compact UKB-TOPMed 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 UKB-TOPMed association results for one variant --- ## Operating rules - Use `scripts/ukb_topmed_phewas.py` for all UKB-TOPMed PheWAS lookups. - Accept exactly one of `rsid`, `grch37`, `grch38`, or `variant`; resolve to the canonical GRCh38 `chr:pos-ref-alt` query before calling UKB-TOPMed. - 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":"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`, `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 ```bash echo '{"grch38":"10:112998590-C-T","max_results":10}' | python scripts/ukb_topmed_phewas.py ``` ## References - No additional runtime references are required; keep the import package limited to this file and `scripts/ukb_topmed_phewas.py`.