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 …
The role of sex in the genomics of human complex traits
Nearly all human complex traits and disease phenotypes exhibit some degree of sex
differences, including differences in prevalence, age of onset, severity or disease …
differences, including differences in prevalence, age of onset, severity or disease …
The impact of sex on gene expression across human tissues
M Oliva, M Muñoz-Aguirre, S Kim-Hellmuth, V Wucher… - Science, 2020 - science.org
INTRODUCTION Many complex human phenotypes, including diseases, exhibit sex-
differentiated characteristics. These sex differences have been variously attributed to …
differentiated characteristics. These sex differences have been variously attributed to …
Accurate estimation of cell composition in bulk expression through robust integration of single-cell information
We present Bisque, a tool for estimating cell type proportions in bulk expression. Bisque
implements a regression-based approach that utilizes single-cell RNA-seq (scRNA-seq) or …
implements a regression-based approach that utilizes single-cell RNA-seq (scRNA-seq) or …
Genetic variation influencing DNA methylation provides insights into molecular mechanisms regulating genomic function
We determined the relationships between DNA sequence variation and DNA methylation
using blood samples from 3,799 Europeans and 3,195 South Asians. We identify …
using blood samples from 3,799 Europeans and 3,195 South Asians. We identify …
An xQTL map integrates the genetic architecture of the human brain's transcriptome and epigenome
We report a multi-omic resource generated by applying quantitative trait locus (xQTL)
analyses to RNA sequence, DNA methylation and histone acetylation data from the …
analyses to RNA sequence, DNA methylation and histone acetylation data from the …
Single-cell RNA sequencing identifies celltype-specific cis-eQTLs and co-expression QTLs
Genome-wide association studies have identified thousands of genetic variants that are
associated with disease. Most of these variants have small effect sizes, but their downstream …
associated with disease. Most of these variants have small effect sizes, but their downstream …
Identification of context-dependent expression quantitative trait loci in whole blood
Genetic risk factors often localize to noncoding regions of the genome with unknown effects
on disease etiology,. Expression quantitative trait loci (eQTLs) help to explain the regulatory …
on disease etiology,. Expression quantitative trait loci (eQTLs) help to explain the regulatory …
The single-cell eQTLGen consortium
In recent years, functional genomics approaches combining genetic information with bulk
RNA-sequencing data have identified the downstream expression effects of disease …
RNA-sequencing data have identified the downstream expression effects of disease …
Cellular deconvolution of GTEx tissues powers discovery of disease and cell-type associated regulatory variants
MKR Donovan, A D'Antonio-Chronowska… - Nature …, 2020 - nature.com
Abstract The Genotype-Tissue Expression (GTEx) resource has provided insights into the
regulatory impact of genetic variation on gene expression across human tissues; however …
regulatory impact of genetic variation on gene expression across human tissues; however …