Pim van der Harst

Federated single-cell QTL meta-analysis reveals novel disease mechanisms

The paper performs a federated cis-eQTL meta-analysis across single-cell datasets to identify cell-type-specific genetic effects and link them to disease mechanisms.

The gut microbiome across the cardiovascular risk spectrum

The paper examines gut microbiome changes across different cardiovascular risk levels and in STEMI patients, identifying microbial species and pathways associated with cardiovascular risk and disease.

Clonal hematopoiesis is driven by aberrant activation of TCL1A

The paper develops PACER to infer clonal expansion rates from single timepoint data and identifies TCL1A activation as a mediator of clonal hematopoiesis fitness.

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

The paper identifies co-expression QTLs (co-eQTLs) using single-cell RNA-seq data, revealing how genetic variants affect gene co-expression patterns and regulatory networks in specific cell types.

The genetic makeup of the electrocardiogram

This paper identifies novel genetic loci for cardiac disorders by analyzing the morphological effects of genetic variants across the entire cardiac cycle represented by the ECG.

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.

Multi-ancestry GWAS of the electrocardiographic PR interval identifies 210 loci underlying cardiac conduction

This study identifies 210 genetic loci associated with the PR interval through multi-ancestry GWAS, highlighting their role in cardiac conduction and cardiovascular disease.

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.

KCND3 is a novel susceptibility locus for early repolarization

This study identifies a genome-wide significant association between a variant in the KCND3 gene and early repolarization pattern on ECG, suggesting a genetic basis for this trait.

Genome-wide association and functional studies identify 46 novel loci for alcohol consumption and suggest common genetic mechanisms with neuropsychiatric disorders

This study identifies 46 novel genetic loci associated with alcohol consumption and suggests shared genetic mechanisms with neuropsychiatric disorders using GWAS and functional analyses.

Genetic study links components of the autonomous nervous system to heart-rate profile during exercise

This study identifies genetic variants associated with heart rate increase and recovery during exercise, linking them to neuronal pathways but not directly to mortality or cardiovascular disease.