gwas-catalog

What problem does it solve?

This Skill helps researchers link genome-wide association study (GWAS) results to functional genomic annotations from ENCODE by identifying overlaps and potential causal regulatory variants.

Core Features & Use Cases

• GWAS Data Retrieval: Fetches GWAS associations, variants, and study information via the GWAS Catalog REST API.
• ENCODE Data Integration: Provides access to ENCODE experimental data such as peaks for histone modifications, open chromatin, and transcription factor binding in relevant tissues.
• Genomic Intersection: Enables intersection of GWAS variants and LD proxies with ENCODE regulatory elements to prioritize causal variants.
• Use Case: A researcher analyzing type 2 diabetes can identify GWAS variants overlapping pancreatic islet enhancers, thus pinpointing regulatory mechanisms.

Quick Start

Input GWAS-associated variants into this Skill to locate corresponding regulatory elements and understand their functional context within ENCODE datasets.