Albert Henry

Impact of Rare and Common Genetic Variation on Cell Type-Specific Gene Expression

Single-cell eQTL mapping in 5.4 million PBMCs from 1,925 individuals with matched WGS finds common-variant eQTLs for 83% and rare-variant signals for 47% of 21,404 genes.

Tandem repeat variation shapes immune cell type-specific gene expression

The paper identifies immune cell type-specific gene expression regulated by tandem repeats using multi-omics data from large cohorts.

Single-cell genetics identifies cell-type-specific effector genes across complex traits and diseases

The paper uses single-cell eQTL data to identify cell-type-specific effector genes associated with 69 diseases and 31 biomarker traits, revealing distinct immune cell contributions to disease.

Genetic regulation of cell type-specific chromatin accessibility shapes immune function and disease risk

The paper maps chromatin accessibility and genetic variation in immune cells, showing how integrating cell-type-specific data improves disease risk understanding.

Endothelial Colony-Forming Cell Transcriptomic Profiling in CT-defined Coronary Artery Disease from the BioHEART-CT Study Implicate CCBE1 in Mitochondrial Dysfunction-associated Atherosclerosis

This study identifies CCBE1 as a gene associated with mitochondrial dysfunction in atherosclerosis using transcriptomic analysis of endothelial cells from CAD patients.

Genome-wide association analysis reveals insights into the molecular aetiology underlying dilated cardiomyopathy

This study identifies 80 genetic loci and 61 effector genes associated with dilated cardiomyopathy through GWAS and integrates transcriptomic data to uncover biological pathways and cellular states involved in the disease.

Coupled myovascular expansion directs cardiac growth and regeneration

This study shows that coupled proliferation of cardiac endothelial cells and cardiomyocytes is essential for heart growth and regeneration, mediated by VEGF-VEGFR2 signaling.

Genomic analysis reveals a functional role for myocardial trabeculae in adults

The paper identifies genetic associations with myocardial trabecular complexity using UK Biobank data and shows a causal link to ventricular function and electrical activity.

Phenome-wide association analysis of LDL-cholesterol lowering genetic variants in PCSK9

The paper analyzes genetic variants at the PCSK9 locus to assess their phenotypic effects on lipid levels and disease outcomes, finding concordance with PCSK9 inhibitor trials for myocardial infarction but discordance for type 2 diabetes.

Genome-wide association study provides new insights into the genetic architecture and pathogenesis of heart failure

This study conducts a large GWAS on heart failure, identifying 12 genetic loci with associations to CAD, atrial fibrillation, and reduced left ventricular function, and provides causal evidence for several risk factors.