Philip S. Tsao

This study shows maternal e-cigarette vaping increases AAA growth in offspring mice and causes transgenerational DNA methylation and accessibility changes.

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.

The paper describes methylation profiling in the Million Veteran Program, identifies smoking-associated epigenetic signatures, and reports novel probe-smoking associations through ancestry-stratified EWAS.

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 study uses large biobanks to identify gene-trait pairs with causal evidence, rediscover approved drug targets, and develop a predictive model for drug development.

This study uses Mendelian randomization to show that higher glycemic traits are inversely associated with thoracic aortic diameters and reduced risk of aneurysm and dissection.

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

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.

This study investigates the genetic relationships between diabetes, coronary artery disease, and abdominal aortic aneurysm using GWAS data, revealing shared and distinct genetic components.

This study shows that platelet inhibition increases rupture risk in early abdominal aortic aneurysm models in mice.

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 shows mitochondrial transplantation enhances CD4+ T cell function in elderly individuals and mice infected with Mycobacterium tuberculosis by reducing exhaustion and senescence.

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 paper introduces scPRS, a deep learning model that deconvolves polygenic risk scores at the single-cell level to uncover cellular and molecular disease mechanisms in complex human diseases.

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.

The paper identifies CCDC146 as a modifier of ALS survival through primary cilia dysfunction and shows ASO targeting of CCDC146 rescues ALS phenotypes in human and mouse models.

This paper evaluates plasma biomarkers for causal association with peripheral artery disease using Mendelian randomization, identifying 19 biomarkers with significant genetic evidence for causality.

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

This study shows platelets worsen AAA by promoting inflammation, ECM degradation, and osteopontin release, with platelet depletion reducing aneurysm growth.

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 identifies a novel risk locus for PAD on 2q35 in Dominicans using admixture mapping and health systems data.

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 analyzes pharmacogenetic variant frequencies in the MVP dataset to represent US population diversity across different ancestries.

The paper tests for genetic interactions affecting causal variant effect sizes in gene expression and LDL-C across European and African American populations, finding significant evidence in gene expression but not LDL-C.

This study combines common and rare variant analyses with single-cell multiomics to identify cell-type-specific genetic risk factors for severe COVID-19, revealing molecular mechanisms and potential therapeutic targets.

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 144 genetic loci associated with abdominal aortic aneurysm and highlights PCSK9 as a therapeutic target through Mendelian Randomization and pre-clinical validation.

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.