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 …
A compendium of uniformly processed human gene expression and splicing quantitative trait loci
N Kerimov, JD Hayhurst, K Peikova, JR Manning… - Nature …, 2021 - nature.com
Many gene expression quantitative trait locus (eQTL) studies have published their summary
statistics, which can be used to gain insight into complex human traits by downstream …
statistics, which can be used to gain insight into complex human traits by downstream …
The impact of sex on gene expression across human tissues
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 …
Phenome-wide Mendelian randomization map** the influence of the plasma proteome on complex diseases
The human proteome is a major source of therapeutic targets. Recent genetic association
analyses of the plasma proteome enable systematic evaluation of the causal consequences …
analyses of the plasma proteome enable systematic evaluation of the causal consequences …
Shared genetic effects on chromatin and gene expression indicate a role for enhancer priming in immune response
Regulatory variants are often context specific, modulating gene expression in a subset of
possible cellular states. Although these genetic effects can play important roles in disease …
possible cellular states. Although these genetic effects can play important roles in disease …
Landscape of stimulation-responsive chromatin across diverse human immune cells
A hallmark of the immune system is the interplay among specialized cell types transitioning
between resting and stimulated states. The gene regulatory landscape of this dynamic …
between resting and stimulated states. The gene regulatory landscape of this dynamic …
A genetic link between risk for Alzheimer's disease and severe COVID-19 outcomes via the OAS1 gene
Recently, we reported oligoadenylate synthetase 1 (OAS1) contributed to the risk of
Alzheimer's disease, by its enrichment in transcriptional networks expressed by microglia …
Alzheimer's disease, by its enrichment in transcriptional networks expressed by microglia …
Distinctive roles of age, sex, and genetics in sha** transcriptional variation of human immune responses to microbial challenges
B Piasecka, D Duffy, A Urrutia… - Proceedings of the …, 2018 - National Acad Sciences
The contribution of host genetic and nongenetic factors to immunological differences in
humans remains largely undefined. Here, we generated bacterial-, fungal-, and viral …
humans remains largely undefined. Here, we generated bacterial-, fungal-, and viral …
The missing link between genetic association and regulatory function
The genetic basis of most traits is highly polygenic and dominated by non-coding alleles. It is
widely assumed that such alleles exert small regulatory effects on the expression of cis …
widely assumed that such alleles exert small regulatory effects on the expression of cis …