Daniel James Rader

A Computational and Statistical Framework Leveraging AI-Derived CT Phenotypes for Causal Mediation Effects Between Genetic Variants and Disease

This paper uses GWAS and mediation analysis on CT-derived phenotypes to show genetic variants influence disease through intermediate imaging traits.

The landscape of plasma proteomic links to human organ imaging

The paper maps phenotypic and genetic links between plasma proteins and organ imaging traits using UK Biobank data, identifying associations and causal links across multiple organs.

Ensilication preserves high-molecular weight native DNA for clinical long-read sequencing

This paper demonstrates that ensilication preserves DNA integrity at ambient temperature, enabling diagnostic-quality long-read sequencing without cold-chain infrastructure.

Exome wide association study for blood lipids in 1,158,017 individuals from diverse populations

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 Biobank Rare Variant consortium powers the discovery of rare genetic associations through global collaboration

The paper establishes a global consortium to discover rare genetic associations by integrating data from multiple biobanks, identifying 514 gene-trait associations, many detectable only through cross-ancestry meta-analysis.

Evaluation of the genome-informed risk assessment (GIRA) approach from eMERGE in an independent health system

This study evaluates the GIRA approach in a health system, finding 30.4% of patients labeled high-risk based on genomic data, with ancestry differences and social deprivation influences.

Expanded Chromatin Accessibility Mapping Explains Genetic Variation Associated with Complex Traits in Liver

The paper integrates chromatin accessibility data with GWAS to identify regulatory mechanisms underlying blood lipid traits, finding 20% of signals lack proposed mechanisms.

Mapping rare protein-coding variants on multi-organ imaging traits

The paper identifies rare protein-coding variants associated with multi-organ MRI traits using exome-wide association analysis in the UK Biobank.

OxLDL-targeted Chimeric Antigen Receptor T Regulatory Cells Reduce Atherosclerotic Plaque Development

This study develops anti-OxLDL CAR Tregs that reduce atherosclerotic plaque formation in mice by targeting OxLDL-mediated inflammation.

An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser

This paper optimizes variant prioritization parameters for Exomiser and Genomiser to improve diagnostic yield in rare disease cases using WES and WGS data.

Modeling Fibrosis with MASH Patient Liver-Derived Organoids.

The paper develops a 3D MASH liver fibrosis model using patient-derived organoids and shows that YAP1 knockdown reduces fibrosis by inducing myofibroblast senescence.

Large-scale evaluation of proteomic and polygenic risk scores reveals complementary contributions to incident disease prediction

The paper evaluates proteomic and polygenic risk scores for disease prediction, finding proteomic scores outperform polygenic scores in most traits and show temporal responsiveness.

Contextualizing molecular and structural aging across human organs

The paper investigates organ-specific and modality-specific aging clocks using proteomic and imaging data, revealing distinct biological processes and their roles in age-related diseases.

Genome-wide Association Study of Long COVID

This study performs a genome-wide association study for Long COVID, identifying a significant association with the FOXP4 locus and highlighting the role of pulmonary dysfunction and COVID-19 severity.

PPP1R3B is a metabolic switch that shifts hepatic energy storage from lipid to glycogen

This paper investigates the role of PPP1R3B in hepatic metabolism, finding it acts as a switch that promotes glycogen storage over lipid accumulation, with implications for metabolic diseases.

Trans-ancestry genome-wide association meta-analysis of gallstone disease

This study identifies 91 risk loci for gallstone disease through a trans-ancestry GWAS, including 37 novel loci, and links them to metabolic and liver-related traits.

Population Performance and Individual Agreement of Coronary Artery Disease Polygenic Risk Scores

This study evaluates the reliability of coronary artery disease polygenic risk scores across diverse populations, finding poor individual agreement despite equivalent population-level performance.

Sleep and Activity Patterns in Autism Spectrum Disorder

The paper identifies sleep and activity patterns associated with autism spectrum disorder using wearable data and machine learning.

An aortic hemodynamic fingerprint reduced order modeling analysis reveals traits associated with vascular disease in a medical biobank

The paper uses reduced order modeling of aortic hemodynamics from CT scans to identify clinically relevant associations with vascular diseases in a biobank.

Genome-wide association meta-analysis identifies novel ancestry-specific primary open-angle glaucoma loci and shared biology with vascular mechanisms and cell proliferation

This study identifies ancestry-specific and sex-specific genetic loci for primary open-angle glaucoma through a meta-analysis of 15 biobanks, highlighting shared biology with vascular mechanisms and cell proliferation.

CYP2C19 Polymorphisms and Clinical Outcomes Following Percutaneous Coronary Intervention (PCI) in the Million Veterans Program

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.

FOG2 coding variant Ser657Gly is associated with Coronary Microvascular Disease through altered hypoxia-mediated gene transcription

The paper identifies a FOG2 variant associated with coronary microvascular disease and shows it alters hypoxia-mediated gene transcription and angiogenesis.

Evaluating the contribution of cell-type specific alternative splicing to variation in lipid levels

The paper identifies cell-type specific splicing quantitative trait loci (sQTLs) in iPSCs and HLCs and shows they contribute to lipid level variation beyond what is captured by gene expression alone.

Cross-Ancestry Investigation of Venous Thromboembolism Genomic Predictors

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.

Whole genome sequence analysis of blood lipid levels in >66,000 individuals

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.

Genetic regulation of OAS1 nonsense-mediated decay underlies association with risk of severe COVID-19

The paper identifies a Neandertal introgressed haplotype in the OAS1 gene associated with increased risk of severe COVID-19 and shows it impairs SARS-CoV-2 clearance through genetic regulation of OAS1 expression.

A trans-ancestry genome-wide association study of unexplained chronic ALT elevation as a proxy for nonalcoholic fatty liver disease with histological and radiological validation.

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.

Impact of natural selection on global patterns of genetic variation, and association with clinical phenotypes, at genes involved in SARS-CoV-2 infection.

The paper examines genetic variation and natural selection at SARS-CoV-2 host genes in diverse populations and links selected variants to clinical phenotypes in COVID-19.

Coronary Artery Disease Risk of Familial Hypercholesterolemia Genetic Variants Independent of Historical Cholesterol Exposure

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.

Multi-trait GWAS of atherosclerosis detects novel pleiotropic loci

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