Where are the disease-associated eQTLs?
Most disease-associated variants, although located in putatively regulatory regions, do not
have detectable effects on gene expression. One explanation could be that we have not …
have detectable effects on gene expression. One explanation could be that we have not …
[HTML][HTML] From genome to function by studying eQTLs
Genome-wide association studies (GWASs) have shown a large number of genetic variants
to be associated with complex diseases. The identification of the causal variant within an …
to be associated with complex diseases. The identification of the causal variant within an …
Revealing the architecture of gene regulation: the promise of eQTL studies
Expression quantitative trait loci (eQTL) mapping studies have become a widely used tool
for identifying genetic variants that affect gene regulation. In these studies, expression levels …
for identifying genetic variants that affect gene regulation. In these studies, expression levels …
Functional architectures of local and distal regulation of gene expression in multiple human tissues
Genetic variants that modulate gene expression levels play an important role in the etiology
of human diseases and complex traits. Although large-scale eQTL mapping studies routinely …
of human diseases and complex traits. Although large-scale eQTL mapping studies routinely …
Mapping complex disease traits with global gene expression
Variation in gene expression is an important mechanism underlying susceptibility to
complex disease. The simultaneous genome-wide assay of gene expression and genetic …
complex disease. The simultaneous genome-wide assay of gene expression and genetic …
Dissecting the genetics of the human transcriptome identifies novel trait-related trans-eQTLs and corroborates the regulatory relevance of non-protein coding loci
H Kirsten, H Al-Hasani, L Holdt, A Gross… - Human molecular …, 2015 - academic.oup.com
Genetics of gene expression (eQTLs or expression QTLs) has proved an indispensable tool
for understanding biological pathways and pathomechanisms of trait-associated SNPs …
for understanding biological pathways and pathomechanisms of trait-associated SNPs …
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 …
Landscape of allele-specific transcription factor binding in the human genome
Sequence variants in gene regulatory regions alter gene expression and contribute to
phenotypes of individual cells and the whole organism, including disease susceptibility and …
phenotypes of individual cells and the whole organism, including disease susceptibility and …
The genetic and mechanistic basis for variation in gene regulation
It is now well established that noncoding regulatory variants play a central role in the
genetics of common diseases and in evolution. However, until recently, we have known little …
genetics of common diseases and in evolution. However, until recently, we have known little …
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 …