Title
GSEA-SNP: applying gene set enrichment analysis to SNP data from genome-wide association studies.
Abstract
The power of genome-wide SNP association studies is limited, among others, by the large number of false positive test results. To provide a remedy, we combined SNP association analysis with the pathway-driven gene set enrichment analysis (GSEA), recently developed to facilitate handling of genome-wide gene expression data. The resulting GSEA-SNP method rests on the assumption that SNPs underlying a disease phenotype are enriched in genes constituting a signaling pathway or those with a common regulation. Besides improving power for association mapping, GSEA-SNP may facilitate the identification of disease-associated SNPs and pathways, as well as the understanding of the underlying biological mechanisms. GSEA-SNP may also help to identify markers with weak effects, undetectable in association studies without pathway consideration. The program is freely available and can be downloaded from our website.
Year
DOI
Venue
2008
10.1093/bioinformatics/btn516
BIOINFORMATICS
Keywords
Field
DocType
genome wide association study
Genome,Association mapping,Phenotype,Biology,Tag SNP,Mechanism (biology),Genetic association,Single-nucleotide polymorphism,Bioinformatics,Genetics,SNP
Journal
Volume
Issue
ISSN
24
23
1367-4803
Citations 
PageRank 
References 
18
2.27
0
Authors
4
Name
Order
Citations
PageRank
Marit Holden1255.14
Shiwei Deng2182.27
Leszek Wojnowski3182.27
Bettina Kulle4182.27