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The Genotype-Tissue Expression (GTEx) project

Author(s)
Kellis, Manolis
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Abstract
Genome-wide association studies have identified thousands of loci for common diseases, but, for the majority of these, the mechanisms underlying disease susceptibility remain unknown. Most associated variants are not correlated with protein-coding changes, suggesting that polymorphisms in regulatory regions probably contribute to many disease phenotypes. Here we describe the Genotype-Tissue Expression (GTEx) project, which will establish a resource database and associated tissue bank for the scientific community to study the relationship between genetic variation and gene expression in human tissues.
Date issued
2013-05
URI
http://hdl.handle.net/1721.1/87085
Department
Massachusetts Institute of Technology. Department of Electrical Engineering and Computer Science
Journal
Nature Genetics
Publisher
Nature Publishing Group
Citation
Lonsdale, John, Jeffrey Thomas, Mike Salvatore, Rebecca Phillips, Edmund Lo, Saboor Shad, Richard Hasz, et al. “The Genotype-Tissue Expression (GTEx) Project.” Nature Genetics 45, no. 6 (May 29, 2013): 580–585.
Version: Author's final manuscript
ISSN
1061-4036
1546-1718

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