Connect GWAS disease variants to regulatory elements
gwas-catalogskillsetup L2★35
ammawla/encode-toolkit ↗What it does
Query NHGRI GWAS Catalog for trait-variant associations
Best for
Finding GWAS variants that overlap ENCODE regulatory elements to identify disease-associated regulatory effects
Inputs
- · SNP rs ID
- · trait name
- · p-value threshold
Outputs
- · GWAS variants
- · effect sizes
- · pubmed references
Requires
- · GWAS Catalog REST API
- · NHGRI public database
Preconditions
None; open access
Failure modes
- · Trait name ambiguity
- · Multiple hits with low p-values
- · Effect size heterogeneity across studies
Trust signals
- · NHGRI official repository
- · Curated variant-trait associations