The GTEx Consortium atlas of genetic regulatory effects across human tissues

doi:10.1126/science.aaz1776

GSTDTAP > 气候变化

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
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引用统计
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).