Jennifer E. Huffman

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.

Multi-ancestral GWAS with the VA Million Veteran Program enables functional interpretation of rheumatoid arthritis alleles

This study conducts a multi-ancestry GWAS of rheumatoid arthritis using the VA Million Veteran Program, identifying 152 genome-wide significant loci and improving fine-mapping resolution.

Leveraging Large-Scale Biobanks for Therapeutic Target Discovery

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.

A semi-empirical Bayes approach for calibrating weak instrumental bias in sex-specific Mendelian randomization studies

This paper develops a semi-empirical Bayesian framework to calibrate weak instrumental bias in sex-specific Mendelian randomization studies, revealing significant sex differences in causal effects of sleep phenotypes on cardiovascular diseases.

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.

Whole genome analysis of plasma fibrinogen reveals population-differentiated genetic regulators with putative liver roles.

This study uses whole genome sequencing to identify 18 novel genetic loci associated with plasma fibrinogen levels, including variants more common in African populations and linked to liver-related traits and disease.

Diversity and Scale: Genetic Architecture of 2,068 Traits in the VA Million Veteran Program

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.

Accelerating Genome- and Phenome-Wide Association Studies using GPUs - A case study using data from the Million Veteran Program

This paper optimizes the SAIGE algorithm using GPUs to accelerate GWAS on large datasets, achieving 20x speedup on the Million Veteran Program data.

Genome-wide association analysis and Mendelian randomization proteomics identify novel protein biomarkers and drug targets for primary prevention of heart failure

This study identifies novel genetic risk variants and potential drug targets for heart failure using GWAS and Mendelian randomization proteomics.

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.

Genome-wide association study of obstructive sleep apnea in the Million Veteran Program uncovers genetic heterogeneity by sex

This study conducts a GWAS of obstructive sleep apnea in the Million Veteran Program, identifying sex-specific genetic loci and highlighting genetic heterogeneity by sex.

Genetic Architecture of Heart Failure with Preserved versus Reduced Ejection Fraction

This study compares the genetic architecture of heart failure with preserved ejection fraction (HFpEF) and reduced ejection fraction (HFrEF), finding distinct genetic associations and highlighting HFpEF's heterogeneity.

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.

Genome-wide association study meta-analysis of suicide attempt identifies twelve genome-wide significant loci and implicates genetic risks for specific health factors

This paper conducts a multi-ancestry GWAS meta-analysis of suicide attempt, identifying 12 genome-wide significant loci and finding shared genetic risks with ADHD, smoking, and risk tolerance.

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.

A Phenome-Wide Association Study of genes associated with COVID-19 severity reveals shared genetics with complex diseases in the Million Veteran Program

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.

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.

Transcriptome-wide association study in UK Biobank Europeans identifies associations with blood cell traits.

This study identifies 557 new gene-trait associations for hematological traits using transcriptome-wide association analysis in UK Biobank data.

Alternative splicing of OAS1 alters the risk for severe COVID-19

The paper identifies an alternative splicing variant of OAS1 that provides protection against severe COVID-19 in people of African ancestry, independent of Neanderthal haplotypes.

Genome-wide association study identifies 48 common genetic variants associated with handedness.

This study identifies 48 genetic variants associated with handedness using a large GWAS, highlighting polygenic nature and genetic links to neuropsychiatric traits.

Trans-ethnic and ancestry-specific blood-cell genetics in 746,667 individuals from 5 global populations

This study identifies 5,552 blood-cell trait-variant associations across 746,667 individuals from 5 global populations, including 71 novel loci and ancestry-specific variants not found in European ancestry populations.

The Polygenic and Monogenic Basis of Blood Traits and Diseases

This study identifies 5,106 new genetic variants associated with blood cell traits using large-scale GWAS, highlighting the polygenic and monogenic basis of hematopoiesis.

Discovery of 318 novel loci for type-2 diabetes and related micro- and macrovascular outcomes among 1.4 million participants in a multi-ethnic meta-analysis.

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.

Evaluation of the causal effect of fibrinogen on incident coronary heart disease via Mendelian randomization

This paper evaluates the causal effect of fibrinogen on coronary heart disease using Mendelian randomization, finding a small effect with multi-variant methods but not with single variant approaches.

High-throughput Multimodal Automated Phenotyping (MAP) with Application to PheWAS

This paper develops an automated high-throughput phenotyping method (MAP) that improves phenotype accuracy and scalability for PheWAS studies.

Low-frequency variation in TP53 has large effects on head circumference and intracranial volume

The paper identifies 9 novel genetic loci, including low-frequency variants in TP53, associated with head circumference and intracranial volume in up to 46,000 individuals.

Efficient variant set mixed model association tests for continuous and binary traits in large-scale whole genome sequencing studies

The paper introduces SMMAT, a variant-set mixed model association test for continuous and binary traits in large-scale WGS studies, showing it controls type I error rates and applies to population structured and related samples.

Atrial Fibrillation Genetic Risk Differentiates Cardioembolic Stroke from other Stroke Subtypes

The paper assesses if genetic risk for atrial fibrillation explains cardioembolic stroke risk using genome-wide data from the Stroke Genetics Network.

Meta-analysis of exome array data identifies six novel genetic loci for lung function

Novel blood pressure locus and gene discovery using GWAS and expression datasets from blood and the kidney

This study identifies 6 new blood pressure loci and 48 genes involved in BP regulation using GWAS and gene expression data from blood and kidney tissues.