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 …
human disease and quantitative traits, remains a critical challenge for biomedicine. We …
Common regulatory variation impacts gene expression in a cell type–dependent manner
Studies correlating genetic variation to gene expression facilitate the interpretation of
common human phenotypes and disease. As functional variants may be operating in a …
common human phenotypes and disease. As functional variants may be operating in a …
The GTEx Consortium atlas of genetic regulatory effects across human tissues
GTEx Consortium - Science, 2020 - science.org
The Genotype-Tissue Expression (GTEx) project was established to characterize genetic
effects on the transcriptome across human tissues and to link these regulatory mechanisms …
effects on the transcriptome across human tissues and to link these regulatory mechanisms …
Using an atlas of gene regulation across 44 human tissues to inform complex disease-and trait-associated variation
We apply integrative approaches to expression quantitative loci (eQTLs) from 44 tissues
from the Genotype-Tissue Expression project and genome-wide association study data …
from the Genotype-Tissue Expression project and genome-wide association study data …
Genetic effects on gene expression across human tissues
GTEx Consortium Lead analysts: Aguet François 1 … - Nature, 2017 - nature.com
Abstract Characterization of the molecular function of the human genome and its variation
across individuals is essential for identifying the cellular mechanisms that underlie human …
across individuals is essential for identifying the cellular mechanisms that underlie human …
Dynamic genetic regulation of gene expression during cellular differentiation
BJ Strober, R Elorbany, K Rhodes, N Krishnan… - Science, 2019 - science.org
Genetic regulation of gene expression is dynamic, as transcription can change during cell
differentiation and across cell types. We mapped expression quantitative trait loci (eQTLs) …
differentiation and across cell types. We mapped expression quantitative trait loci (eQTLs) …
Enhancing GTEx by bridging the gaps between genotype, gene expression, and disease
Nature genetics, 2017 - nature.com
Genetic variants have been associated with myriad molecular phenotypes that provide new
insight into the range of mechanisms underlying genetic traits and diseases. Identifying any …
insight into the range of mechanisms underlying genetic traits and diseases. Identifying any …
Redefining tissue specificity of genetic regulation of gene expression in the presence of allelic heterogeneity
Uncovering the functional impact of genetic variation on gene expression is important in
understanding tissue biology and the pathogenesis of complex traits. Despite large efforts to …
understanding tissue biology and the pathogenesis of complex traits. Despite large efforts to …
Multiple causal variants underlie genetic associations in humans
Associations between genetic variation and traits are often in noncoding regions with strong
linkage disequilibrium (LD), where a single causal variant is assumed to underlie the …
linkage disequilibrium (LD), where a single causal variant is assumed to underlie the …
Tensor decomposition for multiple-tissue gene expression experiments
Genome-wide association studies of gene expression traits and other cellular phenotypes
have successfully identified links between genetic variation and biological processes. The …
have successfully identified links between genetic variation and biological processes. The …
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