Themistocles L. Assimes

This study evaluates cancer-specific polygenic risk scores (PRS) across diverse ancestries and finds they predict corresponding cancers with varying effectiveness and limited pleiotropy.

The paper identifies 800 exome-wide significant rare coding variants associated with blood lipids in over a million diverse individuals, including 130 driven by non-European-like populations.

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 why the 9p21.3 CAD risk locus fails to replicate in African ancestry cohorts, finding ancestry-specific LD and haplotype diversity explain the lack of association.

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

The paper develops 11 system-specific methylation clocks from blood samples to quantify aging heterogeneity across physiological systems and identifies aging subtypes with distinct disease patterns.

This study identifies plasma proteins associated with insulin sensitivity across diverse populations and shows their response to interventions, with some proteins suggesting causal relationships and therapeutic targets.

This study identifies plasma proteomic signatures that modestly improve prediction of incident type 2 diabetes compared to clinical and genetic factors.

This study shows that angiographic CAD burden independently contributes to adverse cardiovascular outcomes, even when traditional risk factors are accounted for.

The paper identifies CXCL12 as a genetic driver of coronary artery anatomy variation through GWAS and mouse models, showing its role in fetal coronary development.

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 paper presents a computational drug repurposing framework that identifies FDA-approved drugs for COVID-19 by integrating genetic expression data and EMR data, finding four compounds with protective effects in validation.

This paper develops a plasma proteomic signature for predicting atherosclerotic cardiovascular disease risk using UK Biobank data and finds it modestly improves prediction over clinical and genetic factors.

This study identifies 17 genetic loci associated with sleep duration and lipid levels, offering potential druggable targets for dyslipidemia in individuals with sleep disturbances.

This study identifies novel causal genes for NAFLD using a combination of GWAS, genetic colocalization, and CRISPRi functional screens.

Population-stratified GWAS of 2,068 traits in 635,969 Million Veteran Program participants, 29% genetically non-European, yields 98,485 associations and 57,601 fine-mapped signals with largely shared cross-population architecture.

This study uses Mendelian randomization to assess the causal effect of height on cardiovascular diseases, finding that established risk factors largely explain the association, with minimal residual effect.

The paper develops criteria for identifying, sharing, and reporting novel candidate genes in clinical genomic testing to improve diagnostic yield for Mendelian conditions.

The paper describes the design and pilot results of a study returning genetic results for familial hypercholesterolemia to MVP participants, showing a reduction in LDL-C after genetic counseling.

This study identifies 40 circulating proteins associated with cancer risk using MR and colocalization, highlighting potential therapeutic targets and adverse effects of protein-altering interventions.

This study identifies 240 novel genetic loci associated with mosaic loss of chromosome Y through a multi-ancestry GWAS of the Million Veteran Program and UK Biobank.

This study examines the association between CYP2C19 polymorphisms and major adverse cardiac events after PCI in patients with ACS or SIHD, finding no significant overall association but a numerical increase in risk for ACS patients.

This paper introduces EDGE, a method to detect nonadditive genetic effects in GWAS, finding nonadditive patterns in over 52% of significant loci for coronary artery disease and body mass index.

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.

The paper identifies IL10RB as a key regulator of COVID-19 host susceptibility and severity through integrative analysis of genetic and transcriptomic data, and validates potential drug repositioning candidates.

This study assesses the broad clinical manifestations of polygenic risk for coronary artery disease using genome-wide PRS in the Women's Health Initiative, finding associations with various biomarkers, outcomes, and unexpected cancer risks.

This study investigates the genetic and longitudinal relationship between posttraumatic stress disorder and coronary artery disease using genome-wide data and electronic health records.

This study identifies CpG sites associated with BMI and shows that epigenetic BMI prediction correlates with metabolic health markers.