gwas-database

To retrieve SNP-trait associations from the GWAS Catalog, query the REST API by variant rsID, trait (EFO), gene, or genomic region. This returns p-values, effect sizes, and study metadata with pagination and p-value filtering options.

Yes, you can download GWAS summary statistics for polygenic risk score development via REST API access or FTP downloads. This supports comprehensive downstream analyses like risk scoring and meta-analyses across populations.

The best way to search GWAS data by EFO trait or genomic region is using the GWAS Catalog REST API. It allows targeted queries to fetch matching associations, study metadata, and variant annotations for functional interpretation.

Yes, the GWAS Catalog API provides effect sizes and study metadata for variant-centered reviews. Querying by rsID or gene retrieves comprehensive association data, enabling cross-referencing with nearby genes and external resources.

P-value filtering and pagination work by structuring REST API queries to limit GWAS summary statistics results to significant associations. This manages large genomic datasets efficiently during genetic epidemiology research and variant analysis.

A limitation of accessing GWAS data across multiple sources is the need to unify disparate datasets. This Skill addresses it by providing consolidated REST API access to the GWAS Catalog for studies, associations, variants, and traits.