gwas-catalog skillA
gwas-catalog is agent-read markdown (skill) from ammawla/encode-toolkit: Guide for integrating NHGRI-EBI GWAS Catalog associations with ENCODE regulatory data. Use when users need to find GWAS variants in ENCODE peaks, connect regulatory elements to disease associations, or prioritize functional variants using ENCODE annotations. Trigger on: GWAS, genome-wide association, SNP association, trait association, GWAS Catalog, disease association, risk variant, lead SNP, LD proxy..
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What the file says
# Integrating NHGRI-EBI GWAS Catalog with ENCODE Regulatory Data ## When to Use - User wants to intersect ENCODE regulatory elements with GWAS-associated variants - User asks about "GWAS", "genome-wide association", "disease variants", or "trait-associated SNPs" - User needs to find which GWAS hits overlap enhancers, promoters, or TF binding sites - User wants to prioritize GWAS loci by functional annotation from ENCODE data - Example queries: "find GWAS variants in my H3K27ac peaks", "which diabetes GWAS hits overlap pancreas enhancers?", "annotate GWAS loci with ENCODE regulatory marks" Connect genome-wide association study findings with ENCODE functional annotations to identify which regulatory elements harbor disease-associated variants and prioritize causal mechanisms for non-coding GWAS hits. ## Scientific Rationale **The question**: "Which of the disease-associated variants from GWAS fall within active regulatory elements, and what can ENCODE tell us about their functional impact?" …
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How to install
mdr add ammawla/encode-toolkit/gwas-catalog@git:20260312.665e731mdr add ammawla/encode-toolkit/gwas-catalog@sha256:8cfe3d39113341caPin to a label to follow the author's releases, or to a sha256 to freeze the exact bytes forever. Either way the resolved hash is written to mdr.lock, and mdr install reproduces it on any machine.
[](https://markdownregistry.com/a/art_prdyevjoblpy66sx)
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Source
ammawla/encode-toolkit · 20 stars · license AGPL-3.0 · pushed 2026-09-21 · branch main
API
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