Genetic effects on gene expression across human tissues
Characterization of the molecular function of the human genome and its variation across individuals is essential for identifying the cellular mechanisms that underlie human genetic traits and diseases. The Genotype-Tissue Expression (GTEx) project aims to characterize variation in gene expression le...
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| Format: | Article |
| Language: | English |
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Springer Science and Business Media
2020
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| Online Access: | https://hdl.handle.net/1721.1/125297 |
| _version_ | 1826197511395606528 |
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| author | GTex Consortium |
| author2 | Massachusetts Institute of Technology. Computer Science and Artificial Intelligence Laboratory |
| author_facet | Massachusetts Institute of Technology. Computer Science and Artificial Intelligence Laboratory GTex Consortium |
| author_sort | GTex Consortium |
| collection | MIT |
| description | Characterization of the molecular function of the human genome and its variation across individuals is essential for identifying the cellular mechanisms that underlie human genetic traits and diseases. The Genotype-Tissue Expression (GTEx) project aims to characterize variation in gene expression levels across individuals and diverse tissues of the human body, many of which are not easily accessible. Here we describe genetic effects on gene expression levels across 44 human tissues. We find that local genetic variation affects gene expression levels for the majority of genes, and we further identify inter-chromosomal genetic effects for 93 genes and 112 loci. On the basis of the identified genetic effects, we characterize patterns of tissue specificity, compare local and distal effects, and evaluate the functional properties of the genetic effects. We also demonstrate that multi-tissue, multi-individual data can be used to identify genes and pathways affected by human disease-associated variation, enabling a mechanistic interpretation of gene regulation and the genetic basis of disease. |
| first_indexed | 2024-09-23T10:49:09Z |
| format | Article |
| id | mit-1721.1/125297 |
| institution | Massachusetts Institute of Technology |
| language | English |
| last_indexed | 2024-09-23T10:49:09Z |
| publishDate | 2020 |
| publisher | Springer Science and Business Media |
| record_format | dspace |
| spelling | mit-1721.1/1252972024-04-11T16:55:44Z Genetic effects on gene expression across human tissues GTex Consortium Massachusetts Institute of Technology. Computer Science and Artificial Intelligence Laboratory Characterization of the molecular function of the human genome and its variation across individuals is essential for identifying the cellular mechanisms that underlie human genetic traits and diseases. The Genotype-Tissue Expression (GTEx) project aims to characterize variation in gene expression levels across individuals and diverse tissues of the human body, many of which are not easily accessible. Here we describe genetic effects on gene expression levels across 44 human tissues. We find that local genetic variation affects gene expression levels for the majority of genes, and we further identify inter-chromosomal genetic effects for 93 genes and 112 loci. On the basis of the identified genetic effects, we characterize patterns of tissue specificity, compare local and distal effects, and evaluate the functional properties of the genetic effects. We also demonstrate that multi-tissue, multi-individual data can be used to identify genes and pathways affected by human disease-associated variation, enabling a mechanistic interpretation of gene regulation and the genetic basis of disease. 2020-05-18T20:27:37Z 2020-05-18T20:27:37Z 2017-10 2016-09 2019-06-07T13:12:57Z Article http://purl.org/eprint/type/JournalArticle 0028-0836 1476-4687 https://hdl.handle.net/1721.1/125297 Aguet, François et al. "Genetic effects on gene expression across human tissues." Nature 550, 7675 (October 2017): 204–213 © 2017 Macmillan Publishers Limited, part of Springer Nature en 10.1038/nature24277 Nature Creative Commons Attribution 4.0 International license https://creativecommons.org/licenses/by/4.0/ application/pdf Springer Science and Business Media Nature |
| spellingShingle | GTex Consortium Genetic effects on gene expression across human tissues |
| title | Genetic effects on gene expression across human tissues |
| title_full | Genetic effects on gene expression across human tissues |
| title_fullStr | Genetic effects on gene expression across human tissues |
| title_full_unstemmed | Genetic effects on gene expression across human tissues |
| title_short | Genetic effects on gene expression across human tissues |
| title_sort | genetic effects on gene expression across human tissues |
| url | https://hdl.handle.net/1721.1/125297 |
| work_keys_str_mv | AT gtexconsortium geneticeffectsongeneexpressionacrosshumantissues |