gnomad-database

Query the Genome Aggregation Database (gnomAD). Use when determining the rarity or allele frequency of specific genetic variants, retrieving gene constraint metrics (pLI, LOEUF) to assess loss-of-function intolerance, finding variants in a genomic region or gene, or querying structural variants. Don't use for analyzing individual patient genomes, tracking somatic mutations in cancer (use COSMIC), or requesting raw sequencing reads (use ENA).

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Check one gene's constraint metrics

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Use the gnomad-database skill to retrieve constraint metrics for the gene symbol I provide. Report its pLI and LOEUF, identifying the returned oe_lof_upper field as the LOEUF score, and save the result to a JSON file.

Required inputs

One gene symbol.
uv installed and on PATH; follow the skill's setup guidance if missing.
Complete the skill's gnomAD terms-of-use notification if not already recorded in the workspace.

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