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Found 2 Skills
Interpret genetic variants (SNPs) from GWAS studies by aggregating evidence from multiple databases (GWAS Catalog, Open Targets Genetics, ClinVar). Retrieves variant annotations, GWAS trait associations, fine-mapping evidence, locus-to-gene predictions, and clinical significance. Use when asked to interpret a SNP by rsID, find disease associations for a variant, assess clinical significance, or answer questions like "What diseases is rs429358 associated with?" or "Interpret rs7903146".
Population genetics research using the 1000 Genomes Project (IGSR) -- search populations by superpopulation ancestry (AFR, AMR, EAS, EUR, SAS), retrieve samples by population code, list available data collections, and integrate with GWAS tools for population stratification analysis. Use when users ask about 1000 Genomes populations, sample ancestry, allele frequency variation across continental groups, population-specific GWAS interpretation, or IGSR data collections like the 30x high-coverage resequencing or HGSVC.