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Found 5 Skills
Transform GWAS signals into actionable drug targets and repurposing opportunities. Performs locus-to-gene mapping, target druggability assessment, existing drug identification, safety profile evaluation, and clinical trial matching. Use when discovering drug targets from GWAS data, finding drug repurposing opportunities from genetic associations, or translating GWAS findings into therapeutic leads.
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.
Discover genes associated with diseases and traits using GWAS data from the GWAS Catalog (500,000+ associations) and Open Targets Genetics (L2G predictions). Identifies genetic risk factors, prioritizes causal genes via locus-to-gene scoring, and assesses druggability. Use when asked to find genes associated with a disease or trait, discover genetic risk factors, translate GWAS signals to gene targets, or answer questions like "What genes are associated with type 2 diabetes?"
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".
Connect GWAS variants to biological pathways for drug target discovery. Maps disease-associated SNPs to causal genes via eQTL colocalization (GTEx), links genes to enriched pathways (Reactome, KEGG, MetaCyc), and identifies druggable targets within disease-relevant pathways. Use when asked to translate GWAS findings into mechanistic insights, find pathways enriched for disease genes, discover drug targets from genetic evidence, or answer questions like "What pathways are disrupted in type 2 diabetes based on GWAS data?"