Marguerite R. Irvin

The paper identifies metabolomic and lipidomic associations with depressive symptoms in the REGARDS study, finding significant longitudinal links between certain lipids and depressive symptoms, with sex-specific differences.

This paper compares two Bayesian methods for polygenic risk scores (PRS) for hypertension across two ancestry groups, finding improved performance with updated LD panels and functional annotations, but not equitable results between groups.

This study calibrates polygenic risk scores (PRS) for African American adults based on genetic ancestry, improving risk stratification and effect estimation for type 2 diabetes and height.

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

The paper identifies genetic and phenotypic correlates of mosaic loss of chromosome Y in blood using whole genome sequencing data from the TOPMed program.

This paper conducts a multi-ancestry time-to-event GWAS to identify genetic variants associated with incident cardiovascular disease in people with type 2 diabetes, finding three novel loci and confirming known CAD variants.

The paper shows the APOL1 p.N264K variant reduces the risk of FSGS and kidney disease in individuals with G2 APOL1 risk alleles.

The paper identifies 83 rare lncRNA variant sets associated with blood lipid levels using WGS data from the TOPMed program and validates some in UK Biobank data.

The paper validates novel telomere length regulation genes POP5 and KBTBD6 identified through trans-ancestry GWAS using functional experiments in blood cells.

This study examines the association between alpha globin gene copy number and ischemic stroke risk in Black Americans, finding no significant association.

The paper selects and validates ten polygenic risk scores for clinical use in diverse populations, focusing on chronic diseases and addressing disparities in predictive performance.

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

The paper identifies a gene-diet interaction modifying the association between macronutrient intake and glycemic traits, highlighting challenges in detecting such interactions due to measurement error and sample size.

This study evaluates how ancestry, GWAS sample size, and LD reference panels affect BMI PRS performance across different age groups and ancestries.

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 performs whole genome sequence association analysis of fasting glucose and insulin levels in diverse cohorts, identifying 22 significant variants across 16 gene regions, including rare variants.

This paper develops a trans-ancestry polygenic risk score for type 2 diabetes and validates it across diverse populations to improve equitable risk prediction.

This paper develops a genome-wide polygenic score for chronic kidney disease that incorporates APOL1 risk genotypes and shows consistent performance across four major continental ancestries.

The paper uses bidirectional Mendelian randomization to show LTL lengthening increases CHIP risk, while CHIP accelerates LTL shortening, with modest mediation between CHIP and CAD via LTL.

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

This study examines the association between HBA copy number and kidney disease risk in Black Americans, finding higher HBA copy number linked to increased CKD prevalence and ESKD incidence.

The paper develops a methylation risk score model for metabolic syndrome using data from two ethnic groups, showing its predictive power across populations.

The paper identifies novel genetic determinants of lipidome variation in a founder population, highlighting rare alleles associated with specific lipid species and replicating known common loci.

This paper introduces RUTH, a new HWE test that accounts for population structure and genotype uncertainty, showing it reduces false positives compared to traditional methods.

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 59 sentinel variants and two novel genes associated with telomere length using whole genome sequences from 109,122 trans-ethnic individuals.

The paper identifies rare non-coding variants from whole genome sequencing in the TOPMed program, showing they contribute significantly to type 2 diabetes heritability.

This study identifies 137 genome-wide significant loci associated with DNA methylation biomarkers of ageing using DNAm and SNP data from over 41,000 individuals.

This study uses TOPMed whole genome sequences to improve imputation quality and detect rare variant associations in admixed African and Hispanic/Latino populations, identifying two novel associations with hematological traits.