Can I use this for polygenic risk score (PRS) development?

Absolutely. The skill helps retrieve effect alleles, p-values, and odds ratios required for identifying variants in risk prediction models.

What identifiers can I use to search the GWAS Catalog?

You can search using variant rs IDs, study accession numbers (GCST IDs), EFO trait terms, gene symbols, or chromosomal regions.

Does this skill provide access to full summary statistics?

Yes, it includes documentation and code patterns for accessing the Summary Statistics API and FTP downloads for complete genome-wide datasets.

How do I filter results by statistical significance?

The skill provides patterns to filter API responses by p-value, commonly using the genome-wide significance threshold of p ≤ 5×10⁻⁸.

GWAS Catalog Database

Name: GWAS Catalog Database
Author: ricable

byricable

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데이터 과학 및 ML

Queries the NHGRI-EBI GWAS Catalog to retrieve SNP-trait associations, genetic variant data, and genome-wide association study summary statistics.

소개

The GWAS Catalog Database skill enables Claude to interface with the premier repository of published genome-wide association studies maintained by NHGRI and EBI. It provides the ability to programmatically search for associations between genetic variants (SNPs) and complex diseases or traits, retrieve study metadata, and access high-resolution summary statistics. This skill is essential for bioinformatics workflows involving genetic epidemiology, polygenic risk score development, and functional genomics analysis, allowing for automated data retrieval and integration from a leading source of human genetic association data.

주요 기능

Interface with the GWAS Catalog and Summary Statistics REST APIs
Access detailed study metadata including PMIDs and ancestry information
Retrieve SNP-trait associations with statistical p-values and effect sizes
1 GitHub stars
Lookup genetic variants using rs IDs or chromosomal coordinates
Search for genetic associations by specific diseases, phenotypes, or genes

사용 사례

Automating bioinformatics pipelines that cross-reference SNPs with associated traits
Identifying genetic risk factors for specific phenotypes during systematic literature reviews
Developing polygenic risk models by extracting variant effect sizes and alleles

소개

주요 기능

Interface with the GWAS Catalog and Summary Statistics REST APIs
Access detailed study metadata including PMIDs and ancestry information
Retrieve SNP-trait associations with statistical p-values and effect sizes
1 GitHub stars
Lookup genetic variants using rs IDs or chromosomal coordinates
Search for genetic associations by specific diseases, phenotypes, or genes

사용 사례

Automating bioinformatics pipelines that cross-reference SNPs with associated traits
Identifying genetic risk factors for specific phenotypes during systematic literature reviews
Developing polygenic risk models by extracting variant effect sizes and alleles