The Genotype-Tissue Expression (GTEx) project
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...
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Nature Publishing Group
2014
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Online Access: | http://hdl.handle.net/1721.1/87085 |
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author | Kellis, Manolis |
author2 | Massachusetts Institute of Technology. Department of Electrical Engineering and Computer Science |
author_facet | Massachusetts Institute of Technology. Department of Electrical Engineering and Computer Science Kellis, Manolis |
author_sort | Kellis, Manolis |
collection | MIT |
description | 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. |
first_indexed | 2024-09-23T13:51:05Z |
format | Article |
id | mit-1721.1/87085 |
institution | Massachusetts Institute of Technology |
language | en_US |
last_indexed | 2024-09-23T13:51:05Z |
publishDate | 2014 |
publisher | Nature Publishing Group |
record_format | dspace |
spelling | mit-1721.1/870852022-09-28T16:34:26Z The Genotype-Tissue Expression (GTEx) project Kellis, Manolis Massachusetts Institute of Technology. Department of Electrical Engineering and Computer Science Kellis, Manolis 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. National Institutes of Health (U.S.) (US NIH to the Broad Institute of Harvard and MIT, R01 DA006227-17) National Institute of Drug Abuse National Institute of Mental Health (U.S.) National Institute of Neurological Disorders and Stroke (U.S.) 2014-05-22T15:32:07Z 2014-05-22T15:32:07Z 2013-05 Article http://purl.org/eprint/type/JournalArticle 1061-4036 1546-1718 http://hdl.handle.net/1721.1/87085 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. en_US http://dx.doi.org/10.1038/ng.2653 Nature Genetics Creative Commons Attribution-Noncommercial-Share Alike http://creativecommons.org/licenses/by-nc-sa/4.0/ application/pdf Nature Publishing Group PMC |
spellingShingle | Kellis, Manolis The Genotype-Tissue Expression (GTEx) project |
title | The Genotype-Tissue Expression (GTEx) project |
title_full | The Genotype-Tissue Expression (GTEx) project |
title_fullStr | The Genotype-Tissue Expression (GTEx) project |
title_full_unstemmed | The Genotype-Tissue Expression (GTEx) project |
title_short | The Genotype-Tissue Expression (GTEx) project |
title_sort | genotype tissue expression gtex project |
url | http://hdl.handle.net/1721.1/87085 |
work_keys_str_mv | AT kellismanolis thegenotypetissueexpressiongtexproject AT kellismanolis genotypetissueexpressiongtexproject |