Cancer Institute A national cancer institute
designated cancer center

Atul Butte

Publication Details

  • Coanalysis of GWAS with eQTLs reveals disease-tissue associations. AMIA Summits on Translational Science proceedings AMIA Summit on Translational Science Kang, H. P., Morgan, A. A., Chen, R., Schadt, E. E., Butte, A. J. 2012; 2012: 35-41


    Expression quantitative trait loci (eQTL), or genetic variants associated with changes in gene expression, have the potential to assist in interpreting results of genome-wide association studies (GWAS). eQTLs also have varying degrees of tissue specificity. By correlating the statistical significance of eQTLs mapped in various tissue types to their odds ratios reported in a large GWAS by the Wellcome Trust Case Control Consortium (WTCCC), we discovered that there is a significant association between diseases studied genetically and their relevant tissues. This suggests that eQTL data sets can be used to determine tissues that play a role in the pathogenesis of a disease, thereby highlighting these tissue types for further post-GWAS functional studies.

    View details for PubMedID 22779046

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