[HTML][HTML] Identification of genetic variants that impact gene co-expression relationships using large-scale single-cell data

S Li, KT Schmid, DH de Vries, M Korshevniuk, C Losert… - Genome Biology, 2023 - Springer
Background Expression quantitative trait loci (eQTL) studies show how genetic variants
affect downstream gene expression. Single-cell data allows reconstruction of personalized …

Single-cell RNA sequencing identifies celltype-specific cis-eQTLs and co-expression QTLs

MGP Van Der Wijst, H Brugge, DH De Vries, P Deelen… - Nature …, 2018 - nature.com
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 …

[HTML][HTML] The power of single-cell RNA sequencing in eQTL discovery

M Maria, N Pouyanfar, T Örd, MU Kaikkonen - Genes, 2022 - mdpi.com
Genome-wide association studies have successfully mapped thousands of loci associated
with complex traits. During the last decade, functional genomics approaches combining …

[HTML][HTML] Profiling RNA-Seq at multiple resolutions markedly increases the number of causal eQTLs in autoimmune disease

CA Odhams, DS Cunninghame Graham, TJ Vyse - PLoS Genetics, 2017 - journals.plos.org
Genome-wide association studies have identified hundreds of risk loci for autoimmune
disease, yet only a minority (~ 25%) share genetic effects with changes to gene expression …

[HTML][HTML] Optimizing expression quantitative trait locus mapping workflows for single-cell studies

ASE Cuomo, G Alvari, CB Azodi… - Genome biology, 2021 - Springer
Background Single-cell RNA sequencing (scRNA-seq) has enabled the unbiased, high-
throughput quantification of gene expression specific to cell types and states. With the cost of …

[HTML][HTML] scGWAS: landscape of trait-cell type associations by integrating single-cell transcriptomics-wide and genome-wide association studies

P Jia, R Hu, F Yan, Y Dai, Z Zhao - Genome biology, 2022 - Springer
Background The rapid accumulation of single-cell RNA sequencing (scRNA-seq) data
presents unique opportunities to decode the genetically mediated cell-type specificity in …

[HTML][HTML] SURGE: uncovering context-specific genetic-regulation of gene expression from single-cell RNA sequencing using latent-factor models

BJ Strober, K Tayeb, J Popp, G Qi, MG Gordon… - Genome Biology, 2024 - Springer
Genetic regulation of gene expression is a complex process, with genetic effects known to
vary across cellular contexts such as cell types and environmental conditions. We …

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

U Võsa, A Claringbould, HJ Westra, MJ Bonder… - Nature …, 2021 - nature.com
Trait-associated genetic variants affect complex phenotypes primarily via regulatory
mechanisms on the transcriptome. To investigate the genetics of gene expression, we …

The single-cell eQTLGen consortium

MGP van der Wijst, DH De Vries, HE Groot, G Trynka… - elife, 2020 - elifesciences.org
In recent years, functional genomics approaches combining genetic information with bulk
RNA-sequencing data have identified the downstream expression effects of disease …

[HTML][HTML] Targeted genomic analysis reveals widespread autoimmune disease association with regulatory variants in the TNF superfamily cytokine signalling network

AC Richard, JE Peters, JC Lee, G Vahedi, AA Schäffer… - Genome Medicine, 2016 - Springer
Background Tumour necrosis factor (TNF) superfamily cytokines and their receptors regulate
diverse immune system functions through a common set of signalling pathways. Genetic …