Julie Ann Lynch

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 examines the prevalence and penetrance of pathogenic variants in epilepsy genes among U.S. military Veterans, finding increased epilepsy risk for carriers of certain variants.

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 paper develops a germline polygenic score (PRSagg) to predict prostate cancer aggressiveness and validates it across multiple datasets.

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.

This paper shows the HOXB13 p.G84E variant increases prostate cancer risk by threefold in men, but does not lead to more aggressive cancer.

The paper identifies 57 druggable targets for MASLD using genetic data and evaluates their therapeutic potential through Mendelian randomization and structural modeling.

This study identifies prevalence and disease risks for male and female sex chromosome trisomies using registry data from 1.5 million participants, finding shared phenotypic associations across trisomy subtypes.

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.

The paper develops a polygenic risk model for prostate cancer using VA data and validates it in external cohorts, showing its clinical utility in risk stratification.

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.

The paper examines the prevalence, morbidity, and mortality of sex chromosome aneuploidy in men from the MVP cohort, finding a prevalence of 1 in 370 males with higher healthcare utilization and poorer HRQoL but similar life expectancy compared to controls.

This paper develops a genetically informed drug-repurposing pipeline for diabetes using EHRs and validates two anti-hypertensive classes as glycemic regulators.

This study performs a GWAS of dementia in African-ancestry individuals, identifying risk loci and highlighting differences in gene expression.

This study identifies 135 genomic loci associated with venous thromboembolism risk through cross-ancestry GWAS and provides insights into biological pathways and potential therapeutic targets.

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 conducts a trans-ancestry GWAS using chronic ALT elevation as a proxy for NAFLD, identifies 77 significant loci, and validates 17 SNPs with histology and imaging data, revealing genetic links to metabolic and inflammatory traits.

This study identifies genetic variants associated with severe COVID-19 and finds shared genetic architecture with complex diseases using EHR data from the Million Veteran Program.

This study shows that FH genetic variants increase CAD risk even after adjusting for multiple LDL-C measurements from EHRs, indicating LDL-C data alone cannot fully explain the risk.

This study performs multi-trait GWAS on atherosclerosis-related traits to identify novel pleiotropic loci and their potential biological mechanisms.

This study identifies a significant association between the V122I TTR variant and polyneuropathy in Black individuals, highlighting increased risk of hATTR amyloidosis manifestations.

This study shows smoking increases type 2 diabetes risk through BMI, but not coronary artery disease risk, using Mendelian randomization.

Multi-ethnic type 2 diabetes (T2D) meta-analysis of 228,499 cases and 1,178,783 controls finds 318 previously unreported loci, 804 expression-colocalized genes, and 13 SNP-by-T2D vascular-outcome interactions.

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