{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,7]],"date-time":"2026-04-07T07:33:35Z","timestamp":1775547215611,"version":"3.50.1"},"reference-count":8,"publisher":"Oxford University Press (OUP)","issue":"23","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2008,12,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>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.<\/jats:p>\n               <jats:p>Contact: \u00a0bkulle@medisin.uio.no<\/jats:p>\n               <jats:p>Supplementary information: \u00a0Supplementary data are available at Bioinformatics online.<\/jats:p>","DOI":"10.1093\/bioinformatics\/btn516","type":"journal-article","created":{"date-parts":[[2008,10,15]],"date-time":"2008-10-15T02:53:52Z","timestamp":1224039232000},"page":"2784-2785","source":"Crossref","is-referenced-by-count":149,"title":["GSEA-SNP: applying gene set enrichment analysis to SNP data from genome-wide association studies"],"prefix":"10.1093","volume":"24","author":[{"given":"Marit","family":"Holden","sequence":"first","affiliation":[{"name":"1 Norwegian Computing Center, Oslo, Norway, 2Department of Pharmacology, University of Mainz, Mainz, Germany, 3Epi-Gen, Faculty Division Akershus University Hospital and 4Department of Biostatistics, University of Oslo, Oslo, Norway"}]},{"given":"Shiwei","family":"Deng","sequence":"additional","affiliation":[{"name":"1 Norwegian Computing Center, Oslo, Norway, 2Department of Pharmacology, University of Mainz, Mainz, Germany, 3Epi-Gen, Faculty Division Akershus University Hospital and 4Department of Biostatistics, University of Oslo, Oslo, Norway"}]},{"given":"Leszek","family":"Wojnowski","sequence":"additional","affiliation":[{"name":"1 Norwegian Computing Center, Oslo, Norway, 2Department of Pharmacology, University of Mainz, Mainz, Germany, 3Epi-Gen, Faculty Division Akershus University Hospital and 4Department of Biostatistics, University of Oslo, Oslo, Norway"}]},{"given":"Bettina","family":"Kulle","sequence":"additional","affiliation":[{"name":"1 Norwegian Computing Center, Oslo, Norway, 2Department of Pharmacology, University of Mainz, Mainz, Germany, 3Epi-Gen, Faculty Division Akershus University Hospital and 4Department of Biostatistics, University of Oslo, Oslo, Norway"},{"name":"1 Norwegian Computing Center, Oslo, Norway, 2Department of Pharmacology, University of Mainz, Mainz, Germany, 3Epi-Gen, Faculty Division Akershus University Hospital and 4Department of Biostatistics, University of Oslo, Oslo, Norway"}]}],"member":"286","published-online":{"date-parts":[[2008,10,14]]},"reference":[{"key":"2023020212240497200_B1","doi-asserted-by":"crossref","first-page":"429","DOI":"10.1016\/j.tibtech.2005.05.011","article-title":"Pathways to the analysis of microarray data","volume":"23","author":"Curtis","year":"2005","journal-title":"Trends Biotechnol"},{"key":"2023020212240497200_B2","doi-asserted-by":"crossref","first-page":"146","DOI":"10.1159\/000064976","article-title":"Trend tests for case-control studies of genetic markers: power, sample size and robustness","volume":"53","author":"Freidlin","year":"2002","journal-title":"Hum. 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