skills/claude-scientific-skills
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Improve database description for more reliable skill calling

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Timothy Kassis
2025-10-20 16:02:48 -07:00
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scientific-databases/gwas-database/SKILL.md
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name: gwas-database
description: Toolkit for querying the GWAS Catalog, the NHGRI-EBI database of published genome-wide association studies. Use this skill when searching for genetic variants associated with diseases or traits, retrieving SNP-trait associations, accessing GWAS summary statistics, exploring gene-disease relationships, conducting genetic epidemiology research, or performing systematic reviews of genetic associations. Essential for human genetics, precision medicine, and genomic research.
description: Comprehensive toolkit for accessing and querying the GWAS Catalog (NHGRI-EBI database of published genome-wide association studies). Use this skill when you need to: find genetic variants (SNPs) associated with diseases or traits, retrieve SNP-trait associations with p-values and effect sizes, access GWAS summary statistics and genome-wide data, explore gene-disease relationships and pleiotropy, conduct genetic epidemiology research, perform systematic reviews of genetic associations, identify variants for polygenic risk scores, investigate population-specific genetic associations, access curated SNP-trait associations from thousands of GWAS publications, query by rs ID variants, search by disease/trait names, find variants in specific genes or chromosomal regions, retrieve study metadata and publication information, access full summary statistics for downstream analysis, cross-reference with Ensembl and other genomic databases, or perform meta-analyses of genetic associations. Essential for human genetics research, precision medicine applications, genomic research, pharmacogenomics, population genetics, and genetic risk prediction studies.
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# GWAS Catalog Database