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).
uv: Read the uv skill and follow its Setup instructions to ensure
uv is installed and on PATH.
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
Use the Wrapper: ALWAYS execute the provided helper scripts to query the
database rather than accessing the database directly. The scripts
automatically enforce the gnomAD API rate limits gracefully.
Notification: If this skill is used, ensure this is mentioned in the
output.
