The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans
Understanding the functional consequences of genetic variation, and how it affects complex human disease and quantitative traits, remains a critical challenge for biomedicine. We present an analysis of RNA sequencing data from 1641 samples across 43 tissues from 175 individuals, generated as part of...
| Main Authors: | , , , |
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| Other Authors: | |
| Format: | Article |
| Language: | English |
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American Association for the Advancement of Science (AAAS)
2019
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| Online Access: | https://hdl.handle.net/1721.1/121352 |
| _version_ | 1811095366675726336 |
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| author | Ward, Lucas D. Kheradpour, Pouya Iriarte, Benjamin Kamvysselis, Manolis |
| author2 | Massachusetts Institute of Technology. Computer Science and Artificial Intelligence Laboratory |
| author_facet | Massachusetts Institute of Technology. Computer Science and Artificial Intelligence Laboratory Ward, Lucas D. Kheradpour, Pouya Iriarte, Benjamin Kamvysselis, Manolis |
| author_sort | Ward, Lucas D. |
| collection | MIT |
| description | Understanding the functional consequences of genetic variation, and how it affects complex human disease and quantitative traits, remains a critical challenge for biomedicine. We present an analysis of RNA sequencing data from 1641 samples across 43 tissues from 175 individuals, generated as part of the pilot phase of the Genotype-Tissue Expression (GTEx) project. We describe the landscape of gene expression across tissues, catalog thousands of tissue-specific and shared regulatory expression quantitative trait loci (eQTL) variants, describe complex network relationships, and identify signals from genome-wide association studies explained by eQTLs. These findings provide a systematic understanding of the cellular and biological consequences of human genetic variation and of the heterogeneity of such effects among a diverse set of human tissues. |
| first_indexed | 2024-09-23T16:15:58Z |
| format | Article |
| id | mit-1721.1/121352 |
| institution | Massachusetts Institute of Technology |
| language | English |
| last_indexed | 2024-09-23T16:15:58Z |
| publishDate | 2019 |
| publisher | American Association for the Advancement of Science (AAAS) |
| record_format | dspace |
| spelling | mit-1721.1/1213522022-10-02T07:23:20Z The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans Ward, Lucas D. Kheradpour, Pouya Iriarte, Benjamin Kamvysselis, Manolis Massachusetts Institute of Technology. Computer Science and Artificial Intelligence Laboratory Massachusetts Institute of Technology. Department of Electrical Engineering and Computer Science Understanding the functional consequences of genetic variation, and how it affects complex human disease and quantitative traits, remains a critical challenge for biomedicine. We present an analysis of RNA sequencing data from 1641 samples across 43 tissues from 175 individuals, generated as part of the pilot phase of the Genotype-Tissue Expression (GTEx) project. We describe the landscape of gene expression across tissues, catalog thousands of tissue-specific and shared regulatory expression quantitative trait loci (eQTL) variants, describe complex network relationships, and identify signals from genome-wide association studies explained by eQTLs. These findings provide a systematic understanding of the cellular and biological consequences of human genetic variation and of the heterogeneity of such effects among a diverse set of human tissues. 2019-06-18T20:32:55Z 2019-06-18T20:32:55Z 2015-05 2014-10 2019-06-07T12:57:38Z Article http://purl.org/eprint/type/JournalArticle 0036-8075 1095-9203 https://hdl.handle.net/1721.1/121352 GTEx Consortium. "The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans." Science 348, 6235 (May 2015): 648-660 © 2015 American Association for the Advancement of Science en http://dx.doi.org/10.1126/SCIENCE.1262110 Science Article is made available in accordance with the publisher's policy and may be subject to US copyright law. Please refer to the publisher's site for terms of use. application/pdf American Association for the Advancement of Science (AAAS) PMC |
| spellingShingle | Ward, Lucas D. Kheradpour, Pouya Iriarte, Benjamin Kamvysselis, Manolis The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans |
| title | The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans |
| title_full | The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans |
| title_fullStr | The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans |
| title_full_unstemmed | The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans |
| title_short | The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans |
| title_sort | genotype tissue expression gtex pilot analysis multitissue gene regulation in humans |
| url | https://hdl.handle.net/1721.1/121352 |
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