Download gnomAD constraint tables and build Hail Tables with schema validation.
npx skills add https://github.com/bigbio/hvantk --skill gnomad-metrics
Please help me install this Agent Skill. Skill: gnomad-metrics Source: https://github.com/bigbio/hvantk/tree/main/hvantk/skills/gnomad_metrics Command: npx skills add https://github.com/bigbio/hvantk --skill gnomad-metrics
This Skill addresses the difficulty of manually acquiring and integrating standardized gnomAD constraint metrics into variant analysis pipelines, ensuring consistent gene-level intolerance scoring.
Use the gnomad-metrics skill to download the default v2.1.1 constraint table and build it into a Hail Table for your analysis.
High-intent search queries and answers about installing and using this skill.
This Skill automates downloading raw gnomAD constraint TSV or BGZ files from public GCS buckets and reprocesses them into optimized Hail Tables with proper schema validation for genomics research.
gnomAD gene constraint metrics, such as pLI and oe_lof scores, are used in variant annotation workflows to measure gene-level intolerance and prioritize genes for pathogenicity analysis. This Skill acquires v2.1.1 or v4.0 data for this purpose.
Yes, this Skill supports multi-version constraint data integration, allowing you to download and build the gnomAD v4.0 constraint table directly into your Hail environment for variant annotation.
Yes, this Skill supports automated drift detection and reproducible data builds. It ensures consistent gene-level intolerance scoring by applying schema provenance and validation during the Hail Table construction process.
The best way to acquire standardized gnomAD constraint tables is automating the download process from public GCS buckets. This ensures consistent gene-level intolerance scoring and schema provenance for your variant analysis pipelines.
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