gwas-database

To find SNP-trait associations, query the GWAS Catalog by specifying the disease or trait name. The skill retrieves matching genetic variants along with their p-values, effect sizes, and study metadata for genetic epidemiology research.

Yes, you can search for genetic variants by gene name or chromosomal region. The skill queries the NHGRI-EBI GWAS Catalog REST API to locate variants in or near specific genes and retrieves their associated traits and summary statistics.

The best way to retrieve p-values and effect sizes for a specific rs ID is to query the GWAS Catalog using the variant ID. This returns detailed variant information including associated traits and statistical significance data.

To develop polygenic risk scores, query the GWAS Catalog for your target trait to retrieve SNP-trait associations, study metadata, and summary statistics. This data provides the variant effect sizes needed for risk score calculation.

No external dependencies are required. The skill operates independently by querying the NHGRI-EBI GWAS Catalog REST API directly, though it can integrate with external genomic databases for more comprehensive analysis when needed.

Yes, the skill supports searching by chromosomal region in addition to variant ID, disease or trait name, and gene. This allows targeted retrieval of SNP-trait associations within specific genomic intervals.