Queries the NHGRI-EBI GWAS Catalog for genetic variant associations, study metadata, and summary statistics.
The GWAS Catalog Explorer skill enables Claude to interact effectively with the NHGRI-EBI GWAS Catalog, the premier repository for genome-wide association studies. It provides specialized guidance for querying SNP-trait associations, performing gene-centric lookups, and accessing detailed summary statistics through both web interfaces and REST APIs. This skill is indispensable for researchers in genetic epidemiology, functional genomics, and polygenic risk score development who need to integrate high-quality, curated genetic evidence into their bioinformatics workflows.
주요 기능
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02Retrieve SNP-trait associations using rs IDs or EFO ontology terms
03Perform gene-based and chromosomal region searches for genetic variants
04Query and filter GWAS summary statistics by p-value and population
05Access REST API implementation patterns for automated data retrieval
06Cross-reference results with Ensembl, dbSNP, and Open Targets databases
사용 사례
01Identifying genetic risk factors and associated p-values for specific diseases or phenotypes
02Conducting systematic reviews of genetic evidence for drug target validation and discovery
03Extracting significant variant sets for developing polygenic risk scores (PRS)
