Functional characterization of genetic variant effects on expression

ED Flynn, T Lappalainen - Annual Review of Biomedical Data …, 2022 - annualreviews.org
Thousands of common genetic variants in the human population have been associated with
disease risk and phenotypic variation by genome-wide association studies (GWAS) …

Co-expression analysis reveals interpretable gene modules controlled by trans-acting genetic variants

L Kolberg, N Kerimov, H Peterson, K Alasoo - Elife, 2020 - elifesciences.org
Understanding the causal processes that contribute to disease onset and progression is
essential for developing novel therapies. Although trans-acting expression quantitative trait …

Whole-organism eQTL mapping at cellular resolution with single-cell sequencing

E Ben-David, J Boocock, L Guo, S Zdraljevic, JS Bloom… - Elife, 2021 - elifesciences.org
Genetic regulation of gene expression underlies variation in disease risk and other complex
traits. The effect of expression quantitative trait loci (eQTLs) varies across cell types; …

Neonatal genetics of gene expression reveal potential origins of autoimmune and allergic disease risk

QQ Huang, HHF Tang, SM Teo, D Mok… - Nature …, 2020 - nature.com
Chronic immune-mediated diseases of adulthood often originate in early childhood. To
investigate genetic associations between neonatal immunity and disease, we map …

Genetic control of the dynamic transcriptional response to immune stimuli and glucocorticoids at single-cell resolution

JA Resztak, J Wei, S Zilioli, E Sendler… - Genome …, 2023 - genome.cshlp.org
Synthetic glucocorticoids, such as dexamethasone, have been used as a treatment for many
immune conditions, such as asthma and, more recently, severe COVID-19. Single-cell data …

Epigenomic analysis reveals a dynamic and context-specific macrophage enhancer landscape associated with innate immune activation and tolerance

P Zhang, HE Amarasinghe, JP Whalley, C Tay, H Fang… - Genome Biology, 2022 - Springer
Background Chromatin states and enhancers associate gene expression, cell identity and
disease. Here, we systematically delineate the acute innate immune response to endotoxin …

Genotype× environment interactions in gene regulation and complex traits

C Boye, S Nirmalan, A Ranjbaran, F Luca - Nature Genetics, 2024 - nature.com
Genotype× environment interactions (GxE) have long been recognized as a key mechanism
underlying human phenotypic variation. Technological developments over the past 15 years …

Genetic association of molecular traits: a help to identify causative variants in complex diseases

C Vandiedonck - Clinical Genetics, 2018 - Wiley Online Library
In the past 15 years, major progresses have been made in the understanding of the genetic
basis of regulation of gene expression. These new insights have revolutionized our …

Coexistence of multiple functional variants and genes underlies genetic risk locus 11p11. 2 of Alzheimer's disease

M Xu, Q Liu, R Bi, Y Li, H Li, WB Kang, Z Yan… - Biological …, 2023 - Elsevier
Background Genome-wide association studies have identified dozens of genetic risk loci for
Alzheimer's disease (AD), yet the underlying causal variants and biological mechanisms …

A multi-omics perspective of quantitative trait loci in precision medicine

Y Ye, Z Zhang, Y Liu, L Diao, L Han - Trends in Genetics, 2020 - cell.com
Quantitative trait loci (QTL) analysis is an important approach to investigate the effects of
genetic variants identified through an increasing number of large-scale, multidimensional …