gwas-database

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NHGRI-EBI GWAS Catalog REST API for SNP-trait associations from published GWAS. Query studies, associations, variants, traits, genes, summary stats. Build PRS candidates, analyze pleiotropy, fetch stats for Manhattan plots. No auth.

API & Backend 362 stars 36 forks Updated 1 weeks ago NOASSERTION

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# GWAS Catalog Database — SNP-Trait Association Queries ## Overview The NHGRI-EBI GWAS Catalog is a curated collection of published genome-wide association studies, mapping SNP-trait associations with genomic context. The REST API provides programmatic access to studies, associations, variants, traits, genes, and summary statistics. All responses are HAL+JSON with embedded `_links` for pagination. ## When to Use - Finding genetic variants associated with a disease or trait (e.g., "which SNPs are linked to type 2 diabetes?") - Retrieving genome-wide significant associations for a specific variant (rs ID) - Exploring the genetic architecture of complex traits (number of loci, effect sizes) - Checking variant pleiotropy (how many traits a single SNP affects) - Downloading summary statistics for meta-analysis or polygenic risk score construction - Identifying published GWAS studies by disease, gene, or PubMed ID - Cross-referencing EFO trait ontology terms with GWAS evidence - Building candidate gene lists from GWAS association regions - Use **omics-plotting** SKILL to render Manhattan, QQ, and forest plots from the summary statistics / association results - For **drug target validation from GWAS hits**, use `opentargets-database` instead - For **variant functional annotation** (consequence prediction, regulatory impact), use Ensembl VEP via `gget` ## Prerequisites ```bash pip install requests matplotlib numpy ``` **API access**: - **No authentication** required -- fully o...

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Author
jaechang-hits
Repository
jaechang-hits/SciAgent-Skills
Created
6 months ago
Last Updated
1 weeks ago
Language
Python
License
NOASSERTION

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