Results 1 to 10 of about 48,393 (270)

Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression

Nature Genetics, 2021
Trait-associated genetic variants affect complex phenotypes primarily via regulatory mechanisms on the transcriptome. To investigate the genetics of gene expression, we performed cis- and trans-expression quantitative trait locus (eQTL) analyses using ...
Urmo Võsa, Annique A J Claringbould, Harm-Jan Westra   +2 more
exaly   +2 more sources

eQTL studies: from bulk tissues to single cells

Journal of Genetics and Genomics, 2023
An expression quantitative trait locus (eQTL) is a chromosomal region where genetic variants are associated with the expression levels of specific genes that can be both nearby or distant.
Hongyu Zhao, EMMA JINGFEI ZHANG
exaly   +2 more sources

eQTpLot: a user-friendly R package for the visualization of colocalization between eQTL and GWAS signals

BioData Mining, 2021
Background Genomic studies increasingly integrate expression quantitative trait loci (eQTL) information into their analysis pipelines, but few tools exist for the visualization of colocalization between eQTL and GWAS results.
Theodore G. Drivas, Anastasia Lucas, Marylyn D. Ritchie   +2 more
doaj   +2 more sources

A pipeline for RNA-seq based eQTL analysis with automated quality control procedures

BMC Bioinformatics, 2021
Background Advances in the expression quantitative trait loci (eQTL) studies have provided valuable insights into the mechanism of diseases and traits-associated genetic variants.
Tao Wang, Yongzhuang Liu, Junpeng Ruan, Xianjun Dong, Yadong Wang, Jiajie Peng   +5 more
doaj   +2 more sources

eQTL in diseased colon tissue identifies potential target genes associated with IBD [PDF]

Nature Communications
Genome-wide association studies (GWAS) have identified over 300 loci associated with the inflammatory bowel diseases (IBD), but putative causal genes for most loci are unknown.
Nina C. Nishiyama, Sophie Silverstein, Kimberly Darlington, Meaghan M. Kennedy Ng, Katelyn M. Clough, Mikaela Bauer, Caroline Beasley, Akshatha Bharadwaj, Rajee Ganesan, Muneera R. Kapadia, Gwen Lau, Grace Lian, Reza Rahbar, Timothy S. Sadiq, Matthew R. Schaner, Jonathan Stem, Jessica Friton, William A. Faubion, Shehzad Z. Sheikh, Terrence S. Furey   +19 more
doaj   +2 more sources

A cis-eQTL in NSUN2 promotes esophageal squamous-cell carcinoma progression and radiochemotherapy resistance by mRNA-m5C methylation

Signal Transduction and Targeted Therapy, 2022
Esophageal squamous cell carcinoma (ESCC) has poor prognosis because of the dif fi culty in early detection and low sensitivity of advanced disease to radiochemotherapy.
Dongxin Lin
exaly   +2 more sources

Combined GWAS and eQTL analysis uncovers a genetic regulatory network orchestrating the initiation of secondary cell wall development in cotton

New Phytologist, 2020
The cotton fiber serves as a valuable experimental system to study cell wall synthesis in plants, but our understanding of the genetic regulation of this process during fiber development remains limited. We performed a genome-wide association study (GWAS)
Jiwen Yu, Xiangnan Zhang, Chao Shen
exaly   +2 more sources

The Power of Single-Cell RNA Sequencing in eQTL Discovery

Genes, 2022
Genome-wide association studies have successfully mapped thousands of loci associated with complex traits. During the last decade, functional genomics approaches combining genotype information with bulk RNA-sequencing data have identified genes regulated
Minna U Kaikkonen
exaly   +2 more sources

Bayesian Genome-wide TWAS Method to Leverage both cis- and trans-eQTL Information through Summary Statistics

American Journal of Human Genetics, 2020
Transcriptome-wide association studies (TWAS) have been widely used to integrate gene expression and genetic data for studying complex traits. Due to the computational burden, existing TWAS methods do not assess distant trans- expression quantitative ...
Aron S Buchman, Junyu Chen, Shizhen Tang
exaly   +2 more sources

Retinal transcriptome and eQTL analyses identify genes associated with age-related macular degeneration

Nature Genetics, 2019
Genome-wide association studies (GWAS) have identified genetic variants at 34 loci contributing to age-related macular degeneration (AMD)1–3. We generated transcriptional profiles of postmortem retinas from 453 controls and cases at distinct stages of ...
Rinki Ratnapriya, Olukayode A Sosina, Margaret R Starostik   +2 more
exaly   +2 more sources