The DOI matches its Crossref record; 1 of the 1 references it cites were found in a registry or an index.
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. Contact: bkulle@medisin.uio.no Supplementary information: Supplementary data are available at Bioinformatics online.
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Subramanian, A., Tamayo, P., Mootha, V. K., Mukherjee, S., Ebert, B. L., Gillette, M. A., Paulovich, A., Pomeroy, S. L., Golub, T. R., Lander, E. S., et al. (2005) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0506580102 · Cited by 53,625
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Wang, K., Li, M., & Hakonarson, H. (2010) · Nature Reviews Genetics · doi:10.1038/nrg2884 · Cited by 766
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Cardiogenics Consortium, Heinig, M., Petretto, E., Wallace, C., Bottolo, L., Rotival, M., Lu, H., Li, Y., Sarwar, R., Langley, S. R., et al. (2010) · Nature · doi:10.1038/nature09386 · Cited by 283
Identification of Pathways for Bipolar Disorder: A Meta-analysis
Nurnberger, J. I., Koller, D. L., Jung, J., Edenberg, H. J., Foroud, T., Guella, I., Vawter, M. P., & Kelsoe, J. R. (2014) · JAMA Psychiatry · doi:10.1001/jamapsychiatry.2014.176 · Cited by 234
Gene set analysis of genome-wide association studies: Methodological issues and perspectives
Wang, L., Jia, P., Wolfinger, R. D., Chen, X., & Zhao, Z. (2011) · Genomics · doi:10.1016/j.ygeno.2011.04.006 · Cited by 207
A Systems Biology Framework Identifies Molecular Underpinnings of Coronary Heart Disease
Huan, T., Zhang, B., Wang, Z., Joehanes, R., Zhu, J., Johnson, A. D., Ying, S., Munson, P. J., Raghavachari, N., Wang, R., et al. (2013) · Arteriosclerosis, Thrombosis, and Vascular Biology · doi:10.1161/atvbaha.112.300112 · Cited by 167
Metadata
- Authors
- Holden, M., Deng, S., Wojnowski, L., & Kulle, B.
- Venue
- Bioinformatics
- Publisher
- Oxford University Press (OUP)
- Published
- 2008-10-14
- Volume
- 24
- Issue
- 23
- Pages
- 2784-2785
- ISSN
- 1367-4803 (ISSN-L)
- 1367-4811
- OpenAlex
- W2137089630
- Cited by
- 187
- References
- 1
- FWCI
- 5.34
- Type
- journal article
- Language
- en
- Open access
- closed
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- Holden, M., Deng, S., Wojnowski, L., & Kulle, B. (2008). GSEA-SNP: applying gene set enrichment analysis to SNP data from genome-wide association studies. Bioinformatics. https://doi.org/10.1093/bioinformatics/btn516
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