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  • Günther, Torsten, et al. (author)
  • Where in the genome are significant single nucleotide polymorphisms from genome-wide association studies located?
  • 2011
  • In: Omics. - : Mary Ann Liebert Inc. - 1536-2310 .- 1557-8100. ; 15:7-8, s. 507-12
  • Journal article (peer-reviewed)abstract
    • Recent technological progress has permitted the efficient performance of genome-wide association studies (GWAS) to map genetic variants associated with common diseases. Here, we analyzed 2,893 single nucleotide polymorphisms (SNPs) that have been identified in 593 published GWAS as associated with a disease phenotype with respect to their genomic location. In absolute numbers, most significant SNPs are located in intergenic regions and introns. When compared to their representation on the chips, there is essentially overrepresentation of nonsynonymous coding SNPs (nsSNPs), synonymous coding SNPs, and SNPs in untranscribed regions upstream of genes among the disease associated SNPs. A Gene Ontology term analysis showed that genes putatively causing a phenotype often code for membrane associated proteins or signal transduction genes.
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Type of publication
journal article (1)
Type of content
peer-reviewed (1)
Author/Editor
Hebebrand, Johannes (1)
Hinney, Anke (1)
Günther, Torsten (1)
Brockmann, Gudrun A (1)
Schmitt, Armin O (1)
Bortfeldt, Ralf H (1)
University
Uppsala University (1)
Language
English (1)
Research subject (UKÄ/SCB)
Natural sciences (1)
Year
2011 (1)

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