Joseph E. Powell

Genetic variants shape single-cell chromatin accessibility and disease risk.

Understanding how genetic variation shapes gene regulation at single-cell resolution is crucial for elucidating complex disease mechanisms1, but has been limited by the lack of large-scale single-cell multi-omics data2-4. Here we present single-cell assay for transposase-accessible chromatin with sequencing of 3.5 mill...

Rare and common genetic variants shape single-cell immune gene expression.

Understanding the genetic basis of gene expression can shed light on the regulatory mechanisms underlying complex traits and diseases1,2. Single-cell-resolved measures of RNA levels and single-cell expression quantitative trait loci have revealed genetic regulation that drives cell states and types across diverse tissu...

Genetic variants associated with cell-type-specific intra-individual gene expression variability reveal new mechanisms of genome regulation

Gene expression levels can vary substantially across cells, even in a seemingly homogeneous cell population. Identifying the relationships between genetic variation and gene expression is critical for understanding the mechanisms of genome regulation. However, the genetic control of gene expression variability among th...

A Community-Driven Single-Cell PBMC Reference Integrating Landmark Datasets Spanning Health and Disease

A Community-Driven Single-Cell PBMC Reference Integrating Landmark Datasets Spanning Health and Disease

Comparison of Performance of Publicly Available Polygenic Risk Scores to Predict Clinically Actionable Coronary Artery Calcium Scores: The BioHEART-CT Cohort.

AIM Coronary artery disease (CAD) remains the leading cause of morbidity and mortality globally. Polygenic Risk Scores (PRS) have been trained against major adverse cardiovascular outcomes (MACE) in large cohorts. Few studies have examined the effectiveness of these CAD MACE PRS tools in detecting individuals with subc...

Cell-type-specific eQTLs underlie the genetic architecture of complex traits.

This work unbiasedly characterized cell-type-specific eQTLs by applying a variance component model to population-scale single-cell RNA-sequencing (RNA-seq) data and established eQTL cell-type specificity as a key feature of gene regulation and partly explain why known eQTLs are depleted in gene regulatory effects on co...