Nancy Jean Cox

This study identifies transcriptomic and neurological mechanisms of stuttering using GWAS, TWAS, MR, and neuroimaging analyses of large datasets.

HAUDI improves polygenic score construction for admixed populations by efficiently extending the GAUDI method to multi-way admixture with faster computation and better performance.

This study develops a genetics-informed framework to repurpose drugs for type 2 diabetes, identifying telmisartan as a potential treatment based on GWAS data and EHR validation.

The paper performs GWAS on cardiovascular outcomes in CKD patients, identifying stroke-associated SNVs but not replicating CHD findings, and finding genetic correlations with published GWAS.

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 investigates the shared genetic architecture between rhythm and dyslexia using large-scale genome-wide association studies.

The paper identifies genetic risk factors for hypertriglyceridemia in African ancestry populations using whole genome sequencing and electronic health records.

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

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.

This study investigates the clinical consequences of a genetic predisposition to lower white blood cell counts using a polygenic score and finds associations with bone marrow biopsy outcomes and treatment responses.

This study performs a multi-ancestry meta-analysis of tobacco use disorder using electronic health records, identifying 88 risk loci and 461 potential risk genes, and linking TUD to various health outcomes.

This study identifies gene expression changes linked to exfoliation syndrome using TWAS and finds enrichment for inflammatory genes, suggesting inflammation's role in the disease.

This study investigates the association between APOL1 risk variants and sepsis occurrence in Black patients with infections, finding that the increased risk is largely due to pre-existing severe renal disease.

This study uses whole-genome sequencing to analyze mosaic chromosomal alterations across diverse ancestries, finding higher rates in certain populations and associations with germline variants.

This study identifies genes associated with both depression and coronary artery disease that are enriched for inflammation and cardiomyopathy pathways, and finds higher prevalence of cardiomyopathy in individuals with comorbid depression-CAD.

FAVOR provides an online resource and tool for functional annotation of variants from whole genome sequencing studies to aid in disease gene prioritization.

GAUDI improves polygenic risk prediction in admixed populations by modeling ancestry-specific and shared effects, outperforming existing methods in simulations and real data.

This study performs a large multi-ancestry meta-analysis of IPF genetics, identifying seven novel genome-wide significant loci and highlighting pleiotropy with severe COVID-19 and sex-heterogeneity at the MUC5B locus.

The paper outlines best practices for conducting multi-ancestry transcriptome-wide association studies (TWAS) using the Global Biobank Meta-analysis Initiative data, addressing challenges in ancestry and tissue specificity.

This paper translates the PRS-CS polygenic risk score method to Julia, achieving 5.5x faster computation with maintained accuracy across nine traits.

This study identifies novel genetic loci for BMI, height, and WHRadjBMI in Hispanic/Latino populations and shows the benefits of ancestral diversity in GWAS.

This study examines the genetic links between baseline hematological parameters and risk of SARS-CoV-2 infection and severe COVID-19 using Mendelian randomization and GWAS data.

The paper identifies novel genetic associations for biomarker traits in non-European UK Biobank populations, highlighting missed signals in European-centric analyses.

The paper develops a model to identify patients likely to have a genetic disease using EHR data, achieving high accuracy in predicting genetic testing needs.

This study identifies gene sets associated with Tourette Syndrome using genome-wide data, highlighting synaptic and immune-related pathways.

This study develops polygenic transcriptome risk scores (PTRS) to improve the portability of polygenic risk scores across ancestries, showing better performance in African populations compared to traditional PRS.

The paper presents a large ASE resource from GTEx v8 with 431 million SNP-level and 153 million haplotype-level measurements, and extends phASER to estimate cis regulatory variant effect sizes.

The paper uses bulk RNA-seq data to estimate cell type abundances and identifies cell type interaction QTLs that provide finer resolution of tissue specificity than bulk cis-eQTLs.