Mark D. Chaffin

The paper analyzes expression and splicing quantitative trait loci (e/sQTL) across multiple tissues in the TOPMed dataset and finds that secondary e/sQTL signals are still discoverable, with many GWAS signals colocalizing with these e/sQTL.

This study investigates the association between mosaic loss of Y chromosome (mLOY) and lung function, emphysema, and epigenetic aging in men across multiple cohorts.

This study identifies 12 enhancers in the 9p21.3 CAD risk locus that regulate MTAP, modulating vascular cell-state transitions and CAD risk through stress-responsive mechanisms.

HeartMap integrates single-nucleus RNA sequencing data from 2.4 million cells across 209 individuals to characterize cardiac cell types and identify disease-associated gene signatures in cardiomyopathies.

This paper uses snRNA-seq to analyze human HFpEF myocardium, identifying differential gene expression and pathway enrichment in cardiomyocytes and fibroblasts compared to controls and DCM.

CellBender removes systematic background noise from droplet-based single-cell data using a deep generative model, improving alignment with established gene expression patterns.

The paper applies transfer learning to predict network biology features across different biological contexts.

The paper shows adjusting for common variant polygenic scores improves rare variant association yield in 65 UK Biobank traits without increasing false positives.

The paper uses deep learning and genome-wide association studies to identify genetic loci associated with right heart structure and function in 40,000 individuals.

The paper identifies 51 known and 23 novel gene-disease associations using exome sequencing data from 200,000 UK Biobank participants, highlighting high-impact rare variants for 26 diseases and traits.

This study identifies 35 genes associated with circulating lipid levels using rare coding variants from 170,000 exomes across multiple ancestries.

This study uses deep learning to analyze aortic dimensions from MRI and identifies genetic loci associated with aortic diameter, highlighting SVIL as a key gene and developing a polygenic score for aneurysm risk.

The paper uses polygenic scores to identify plasma proteins causally linked to cardiometabolic diseases and finds some are targets for existing therapies.

The paper reports whole-genome association analyses of sleep-disordered breathing traits in the NHLBI TOPMed program, identifying rare and common variant associations.

The paper uses whole genome sequencing to identify genetic loci associated with platelet aggregation, including novel variants in RGS18, SVEP1, and PEAR1.

The paper uses single-nucleus RNA sequencing to define the transcriptional and cellular diversity of the non-failing human heart, identifying 9 major cell types and 20 subclusters.

Across 1,176,683 airway and lung cells from 22 datasets, ACE2 rises with age, in males and in smokers' multiciliated cells, and is lowest in young children.

The paper identifies a missense variant in the MARC1 gene associated with protection against cirrhosis and lower liver enzyme and cholesterol levels.

This study identifies 26 novel genetic loci associated with cardiac structure and function using MRI data from 29,041 individuals and links them to dilated cardiomyopathy risk.

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

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.

The paper assesses if genetic risk for atrial fibrillation explains cardioembolic stroke risk using genome-wide data from the Stroke Genetics Network.

The paper analyzes whole genome sequences from 16,324 individuals to identify genetic variants associated with blood lipid levels and develops a polygenic score for LDL-C.

A genome-wide polygenic score identifies individuals with a 4-fold increased risk for coronary disease, similar to a rare monogenic mutation.

The paper uses whole genome sequencing to identify genetic variants associated with plasma lipoprotein(a) levels and finds high heritability and inter-ethnic differences in Lp(a) risk.

This study identifies shared genetic architectures between asthma and allergic diseases using genome-wide data from 112,000 individuals.