TSEA-DB

TSEA-DB provides a reference of tissue-specific enrichment results that link GWAS summary statistics to tissues to identify causal tissues for human complex traits and diseases.

Key Features:

• Extensive GWAS data integration: Integrates summary statistics from 5,019 unique GWAS datasets, including 4,423 datasets from the UK Biobank and 596 datasets from the GWAS Catalog and literature mining.
• Trait-associated gene sets: Contains 15,770 trait-associated gene sets derived from integrated GWAS summary statistics.
• Tissue-specific enrichment analysis (TSEA): Systematically performs tissue-specific enrichment analyses using the deTS algorithm to identify tissues enriched for trait-associated genes.
• Reference tissue panels: Leverages gene expression profiles from GTEx v7 (47 tissues) and the ENCODE panel (44 tissues) as reference panels for enrichment analysis.
• Quality control of GWAS summary statistics: Applies rigorous quality control to GWAS summary statistics prior to enrichment analysis.

Scientific Applications:

• Interpretation of GWAS loci: Maps trait-associated genetic variants to tissues by identifying tissue-specific enrichment of associated genes.
• Elucidation of disease etiology: Reveals tissues likely involved in disease mechanisms by highlighting tissue-specific gene enrichment patterns.
• Prioritization for functional follow-up: Guides selection of tissues for downstream experimental validation and functional studies.

Methodology:

Apply rigorous quality control to GWAS summary statistics and perform systematic tissue-specific enrichment analysis using deTS, leveraging GTEx v7 and ENCODE gene expression reference panels.