Eric Boerwinkle

This study identifies mQTLs for serum and urine metabolites across ancestries, revealing ancestry-specific genetic effects and linking them to disease traits.

The paper develops a model to predict NMD outcomes for protein-truncating variants using RNA-seq data, achieving ~78% ROC-AUC and identifying non-canonical determinants.

This study amplifies and sequences human antibody VDJ regions from wastewater, showing diverse antibody sequences and potential for population immunity analysis.

The paper introduces the expected polygenic risk score (ePRS) framework to address population stratification in polygenic risk score analysis by modeling ancestral makeup, showing it provides equitable risk quantification across diverse 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 unexplained admixture mapping signals in the Hispanic Community Health Study/Study of Latinos by examining rare variants and expanded common variant regions, finding that common variants explain most signals.

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

This study identifies NMD-escape variants as a distinct class of disease-causing mutations, showing that altered C-terminal regions drive pathogenicity through phase separation.

This study identifies twelve novel blood pressure loci and shows smoking modifies genetic effects on BP through immune-related pathways in over 1 million individuals.

The paper introduces a robust mixed model association test (RoM) for gene-environment interactions in related samples, showing improved type I error control compared to existing methods.

The paper identifies trans-heterozygous digenic variants in laterality defect genes using exome/genome sequencing data from CHD cohorts, finding significant enrichment in laterality cases compared to controls.

This study uses whole-genome sequence data from diverse participants to identify novel genetic loci associated with brain structural volumes, highlighting the importance of diverse cohorts in uncovering genetic architecture.

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 conducts an epigenome-wide association study (EWAS) meta-analysis of BMI in African American adults, identifying 208 significant CpGs and 54 DMRs associated with BMI, including novel and replicated findings.

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 study identifies gene-environment interactions between excessive daytime sleepiness and genetic variants linked to obstructive sleep apnea severity, revealing novel therapeutic targets.

The paper introduces a CN caller for KIV-2 repeats using short reads, showing high accuracy and demonstrating its correlation with Lp(a) levels and population-specific CN distributions.

The paper investigates the association of common and rare variants with Alzheimer's Disease in 13,371 diverse individuals using whole-genome sequencing, identifying significant genetic loci and population-specific associations.

The paper identifies ancestry-specific and shared genetic regulators of plasma proteins in European and African populations, revealing novel causal relationships and shared pQTLs.

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

The paper develops a method to quantify somatic mutation burden in whole-genome sequencing data without paired-tissue samples and identifies genetic and phenotypic correlates of clonal hematopoiesis without known driver mutations.

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 estimates mCA fitness in the NHLBI TOPMed cohort and identifies genetic variants associated with clonal expansion rates.

This study uses whole genome sequence data from the ADSP to identify 17 significant variants in five genomic regions associated with Alzheimer's disease.

The paper analyzes pathogenic variant frequencies in the All of Us cohort by ancestry, revealing disparities and potential biases in genomic data.

The paper analyzes the Turkish population's variome to understand its impact on rare disease traits, finding that long ROHs and inbreeding contribute to recessive diseases.

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 shows that common splice-regulatory variants can reduce the pathogenicity of rare exonic variants by modulating mRNA splicing.