The GTEx Consortium atlas of genetic regulatory effects across human tissues
Атлас генетических регуляторных эффектов по тканям человека консорциума GTEx
2020-09-10
SCID: 54.1/p7ww7329
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GTEx ConsortiumGenotype-Tissue ExpressionRNA-sequencing across 49 tissuesallelic heterogeneitycell type compositioncis and trans eQTLsgenetic regulatory effectspleiotropy of complex traitssplicing QTLstissue specificity
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Abstract (AI)
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.
Key Findings
1
Analyses describe molecular mechanisms underlying regulatory associations and their contributions to allelic heterogeneity and pleiotropy of complex traits.
2
Cell type composition is identified as a key factor for interpreting gene regulatory mechanisms in human tissues.
3
GTEx v8 analyzes 15,201 RNA-seq samples from 49 tissues of 838 donors to map genetic regulatory effects across human tissues.
4
Regulatory genetic associations for gene expression and splicing (cis and trans) are detected for almost all genes.
5
Tissue specificity of genetic effects is characterized across a large diversity of tissues.
Research Object
Genetic regulatory effects on the transcriptome across human tissues (GTEx v8 dataset of 15,201 RNA-seq samples from 49 tissues of 838 donors)
Research Subject
Comprehensive characterization of genetic associations for gene expression and splicing in cis and trans, their molecular mechanisms, contribution to allelic heterogeneity and pleiotropy, and tissue- and cell-type-specificity of these regulatory effects
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2020-09-10
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