Queries the NHGRI-EBI GWAS Catalog to retrieve genetic variant-trait associations and summary statistics.
The GWAS Database skill enables Claude to interact directly with the NHGRI-EBI GWAS Catalog, the industry-standard repository for genome-wide association studies. It provides structured access to thousands of curated SNP-trait associations, allowing users to look up specific variants by rs ID, search for genetic markers associated with specific diseases or traits, and retrieve comprehensive summary statistics. This skill is essential for bioinformatics workflows, genetic epidemiology research, and the development of polygenic risk scores, offering programmatic patterns for REST API integration and data cross-referencing with genomic resources like Ensembl and dbSNP.
Key Features
01Programmatic access to NHGRI-EBI GWAS Catalog REST APIs
02SNP lookup by rs ID for trait and p-value retrieval
03Chromosomal region and gene-centric association mapping
04Standardized access to GWAS summary statistics and study metadata
05Phenotype and disease-based variant discovery using EFO terms
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Use Cases
01Identifying risk alleles and effect sizes for polygenic risk score (PRS) construction
02Automating systematic reviews of genetic evidence for specific phenotypes
03Annotating custom genomic datasets with known clinical and functional associations
