GeSBAP

GeSBAP performs gene set analysis of polymorphisms to evaluate associations between groups of functionally related genes and phenotypic traits in genome-wide association studies (GWAS).

Key Features:

• Gene Set Analysis Strategy: Implements gene set analysis (GSA) to test associations of modules of functionally related genes with traits, contrasting with single-variant SNP-level testing.
• Increased Analytical Power: Analyzes groups of related genes collectively to enhance statistical power for detecting associations in GWAS datasets, especially for complex traits.
• Gene grouping by function and pathway: Groups genes based on known biological functions, pathways, or other relevant criteria into sets for collective analysis.

Scientific Applications:

• Detection of polygenic associations: Identifies associations that may be missed by single-SNP GWAS approaches due to polygenic architecture.
• Identification of functional relationships: Reveals functional relationships and networks among genes that relate to phenotypic traits.
• Analysis of complex diseases and traits: Facilitates study of the genetic architecture underlying complex diseases and traits by focusing on gene sets and pathways.

Methodology:

Genes are grouped into sets based on known biological functions, pathways, or other relevant criteria, and these gene sets are analyzed collectively in GWAS datasets to identify significant associations with phenotypic traits.