Whitney Hornsby

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.

Genetic architecture of high-dimensional liver radiomic phenotypes and their role in common metabolic diseases

The paper identifies genetic associations with liver radiomic features and their links to metabolic diseases using UK Biobank data.

Machine learning cross-platform proteomic imputation enables protein quality scoring and replication of epidemiological associations

This paper develops a machine learning framework to impute cross-platform proteomic data, improving replication of epidemiological findings and protein quality scoring.

Genomic, phenomic, and geographic associations of leukocyte telomere length in the United States

This study examines associations between leukocyte telomere length and genomic, phenomic, and geographic factors in diverse U.S. populations, identifying novel loci and genes.

GWAS of amiodarone-induced thyroid dysfunction: Applications for genotype-guided risk stratification

This paper identifies genetic variants associated with amiodarone-induced thyroid dysfunction and shows they improve risk prediction beyond general thyroid disease PRS.

Human Plasma Proteomic Profile of Clonal Hematopoiesis

The paper identifies plasma proteins associated with clonal hematopoiesis and links them to cardiovascular disease through proteomic and genetic analyses.

Genome-Wide Assessment of Pleiotropy Across >1000 Traits from Global Biobanks

The paper identifies pleiotropic loci across 1,167 traits using GWAS meta-analysis and shows they are enriched for functional annotations and improve polygenic score predictions.

An integrated polygenic score stratifies risk of peripheral artery disease and adverse limb events in ancestrally diverse cohorts

This paper develops a polygenic score for peripheral artery disease (PAD) that improves risk prediction across diverse populations and identifies high-risk individuals for adverse limb events.

Aladynoulli: A Bayesian approach to disease progression modeling for genomic discovery and clinical prediction

ALADYNOULLI integrates longitudinal health records and genetic data to model disease progression, identifying interpretable disease signatures with cross-population consistency and improving clinical prediction.

Integrative polygenic risk score improves the prediction accuracy of complex traits and diseases

Cross-trait Elastic Net mixing of PGS Catalog scores (PRSmix+) lifted mean PRS accuracy 1.72-fold in Europeans and 1.42-fold in South Asians over the best single score.

Admix-kit: An Integrated Toolkit and Pipeline for Genetic Analyses of Admixed Populations

Admix-kit provides tools for genetic analysis of admixed populations, enabling simulation, association testing, and polygenic scoring.

Decoding Genetics, Ancestry, and Geospatial Context for Precision Health

The paper analyzes genetic, ancestral, and geospatial data from a biobank to explore their relationships with health outcomes in a historically diverse population.

Long-term longitudinal analysis of 4,187 participants reveals new insights into determinants of incident clonal hematopoiesis

This study analyzes 4,187 participants over 21 years to identify factors influencing the development of clonal hematopoiesis, finding age, sex, and dyslipidemia as significant predictors.

Global biobank analyses provide lessons for developing polygenic risk scores across diverse cohorts

This study evaluates polygenic risk score methods across diverse biobanks and ancestries, finding that European reference panels often yield better performance, while PRS-CS outperforms P+T for high-heritability traits.

Meta-analysis fine-mapping is often miscalibrated at single-variant resolution

This paper shows that meta-analysis fine-mapping is often miscalibrated due to cohort heterogeneity and introduces a QC method to identify suspicious loci.

Global Biobank Meta-analysis Initiative: powering genetic discovery across human diseases

Meta-analysis of harmonized GWAS from up to 18 biobanks (six ancestry groups) across 14 endpoints replicated 320 known loci and identified 188 apparently novel loci.

Genomic and phenomic landscape of clonal hematopoiesis in over a million ancestrally diverse participants

This study analyzes clonal hematopoiesis in over a million diverse individuals, identifying 72 genome-wide significant loci and linking CHIP to various phenotypes.

Multi-ancestry GWAS deciphers genetic architecture of abdominal aortic aneurysm and highlights PCSK9 as a therapeutic target

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.

Multi-ancestry meta-analysis identifies 2 novel loci associated with ischemic stroke and reveals heterogeneity of effects between sexes and ancestries

This paper identifies two novel genetic loci associated with ischemic stroke and finds sex and ancestry differences in their effects.

Utility of family history in disease prediction in the era of polygenic scores

The paper evaluates family history and polygenic scores as predictors for coronary artery disease and type 2 diabetes using the Trondelag Health Study and UK Biobank.

Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis

This study identifies 147 genetic loci associated with eGFR, including 53 novel ones, and finds sex-specific effects on kidney function.

Loss-of-function genomic variants with impact on liver-related blood traits highlight potential therapeutic targets for cardiovascular disease

The paper identifies loss-of-function variants affecting liver-related blood traits that reduce CVD risk without increasing metabolic disease risk, highlighting potential therapeutic targets.

Clinical implications of identifying pathogenic variants in aortic dissection patients with whole exome sequencing

This study identifies pathogenic variants in 6 genes in 10.8% of aortic dissection patients using whole exome sequencing, highlighting clinical implications for genetic testing and family screening.

Genome-wide association study of 1 million people identifies 111 loci for atrial fibrillation

This study identifies 111 genetic loci and 163 risk variants associated with atrial fibrillation using a GWAS of over 1 million individuals.

Genome-wide analysis yields new loci associating with aortic valve stenosis

This study identifies two new genetic loci associated with aortic valve stenosis through a large genome-wide association study.