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gnomad-database

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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).

skills/gnomad_database/SKILL.md

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Nov 9, 2026

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Oct 23, 2026
License
Apache-2.0

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# gnomAD Database

## Prerequisites

1.  **`uv`**: Read the `uv` skill and follow its Setup instructions to ensure
    `uv` is installed and on PATH.
2.  **User Notification**: If .licenses/gnomad_database_LICENSE.txt does not
    already exist in the workspace root directory then (1) prominently notify
    the user to check the terms at https://gnomad.broadinstitute.org/policies
    and https://gnomad.broadinstitute.org/data#api, then (2) create the file
    recording the notification text and timestamp.

## Core Rules
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