Global S&T Development Trend Analysis Platform of Resources and Environment
DOI | 10.1126/science.aaz1776 |
The GTEx Consortium atlas of genetic regulatory effects across human tissues | |
The GTEx Consortium | |
2020-09-11 | |
发表期刊 | Science |
出版年 | 2020 |
英文摘要 | Some human genetic variants affect the amount of RNA produced and the splicing of gene transcripts, crucial steps in development and maintaining a healthy individual. However, some of these changes only occur in a small number of tissues within the body. The Genotype-Tissue Expression (GTEx) project has been expanded over time, and, looking at the final data in version 8, Aguet et al. present a deep characterization of genetic associations and gene expression and splicing in 838 individuals over 49 tissues (see the Perspective by Wilson). This large study was able to characterize the details underlying many aspects of gene expression and provides a resource with which to better understand the fundamental molecular mechanisms of how genetic variants affect gene regulation and complex traits in humans. Science , this issue p. [1318][1]; see also p. [1298][2] The Genotype-Tissue Expression (GTEx) project was established to characterize genetic effects on the transcriptome across human tissues and to link these regulatory mechanisms to trait and disease associations. Here, we present analyses of the version 8 data, examining 15,201 RNA-sequencing samples from 49 tissues of 838 postmortem donors. We comprehensively characterize genetic associations for gene expression and splicing in cis and trans, showing that regulatory associations are found for almost all genes, and describe the underlying molecular mechanisms and their contribution to allelic heterogeneity and pleiotropy of complex traits. Leveraging the large diversity of tissues, we provide insights into the tissue specificity of genetic effects and show that cell type composition is a key factor in understanding gene regulatory mechanisms in human tissues. [1]: /lookup/doi/10.1126/science.aaz1776 [2]: /lookup/doi/10.1126/science.abd8340 |
领域 | 气候变化 ; 资源环境 |
URL | 查看原文 |
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文献类型 | 期刊论文 |
条目标识符 | http://119.78.100.173/C666/handle/2XK7JSWQ/294066 |
专题 | 气候变化 资源环境科学 |
推荐引用方式 GB/T 7714 | The GTEx Consortium. The GTEx Consortium atlas of genetic regulatory effects across human tissues[J]. Science,2020. |
APA | The GTEx Consortium.(2020).The GTEx Consortium atlas of genetic regulatory effects across human tissues.Science. |
MLA | The GTEx Consortium."The GTEx Consortium atlas of genetic regulatory effects across human tissues".Science (2020). |
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