Dan E. Arking

The paper shows that inherited and somatic mitochondrial DNA heteroplasmies contribute to hematological malignancies and high-risk clonal hematopoiesis, with most disease-related burden acquired during life.

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

The paper investigates transcriptomic and methylomic changes in HEK 293T cells with reduced mtDNA copy number, revealing compensatory mechanisms in mitochondrial replication and metabolic pathways.

cellSTAAR integrates single-cell ATAC-seq with whole-genome sequencing to enhance power and interpretation of rare variant association tests in non-coding regions.

cpiVAE improves cross-platform proteomics imputation between Olink and SomaScan, achieving higher correlation than KNN and WNN, and enabling better phenotype associations.

This study examines common and rare variant genetic contributions to autism in African Americans, highlighting differences in genetic effects and polygenic score transferability between European and African ancestries.

This study shows that deleterious mitochondrial DNA mutations increase over time and are associated with higher mortality risk, suggesting positive selection rather than genetic drift.

The paper introduces MultiSTAAR, a statistical framework for multi-trait rare variant analysis in WGS studies, identifying new lipid trait associations in diverse populations.

This study shows that mitochondrial heteroplasmy improves risk prediction for myeloid neoplasms when added to existing CHIP-based models.

The paper develops a mitochondrial constraint model applied to gnomAD data, revealing strong depletion of expected variation and identifying constrained regions in mtDNA.

This study shows that reducing mitochondrial DNA copy number in human cells changes nuclear DNA methylation and gene expression, revealing pathways linked to disease.

This study shows that a polygenic risk score for coronary artery disease is associated with more severe atherosclerosis features in autopsy samples of sudden death cases.

The paper identifies impactful rare variants by integrating multi-omic data from MESA, showing that combining expression and protein data increases the detection of rare stop and frameshift variants.

The paper introduces a framework for detecting noncoding rare variant associations using whole-genome sequencing data, applying it to lipid traits in the TOPMed program.

The paper performs whole genome sequence analysis of plasma lipid levels in 66,329 individuals, identifying new lipid-associated alleles, including rare non-coding variants.

This study identifies that heteroplasmic mitochondrial mutations increase mortality risk and are linked to cancer incidence and outcomes, particularly leukemia.

The paper investigates how mitochondrial function affects ALS severity but not risk, identifying specific genetic and expression factors linked to disease progression.

This study investigates how rare and common genetic variations contribute to QT interval duration, finding that both monogenic and polygenic factors influence QTc prolongation, with polygenic risk modulating the effect of rare variants.

This paper presents a bioinformatics pipeline to estimate mitochondrial DNA copy number and heteroplasmy levels from whole genome sequencing data, showing improved accuracy in capturing mitochondrial genetic features.

The paper estimates heritability for height and BMI using whole-genome sequence data and finds that rare variants contribute significantly to the missing heritability.

The paper identifies specific polymorphisms in the D-loop primer region that cause non-random dropout in a monochrome multiplex qPCR assay for mitochondrial DNA copy number.

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

This paper compares the power of hypothesis testing in genome-wide studies using priors versus increasing cohort sizes, finding that larger cohorts provide greater power than strong priors.

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

The paper identifies novel genetic loci associated with blood pressure that interact with sleep duration across multiple ancestries.

Over 400 million variants, 97% below 1% frequency, emerge from deep whole-genome sequencing of 53,831 diverse TOPMed participants; TOPMed haplotypes enable imputation down to ~0.01% frequency.

This study identifies 15 genetic loci associated with muscle weakness in older adults through a large meta-analysis, revealing new pathways linked to aging and health outcomes.

This study identifies 100 loci associated with mitochondrial DNA copy number and finds causal links between mitochondrial function and mortality.