Julie Hunkapiller

GWAS of preeclampsia and hypertensive disorders of pregnancy uncovers genes related to cardiometabolic, endothelial and placental function

This study conducts a GWAS of preeclampsia and hypertensive disorders of pregnancy, identifying 18 genome-wide significant loci, including novel associations with blood pressure and placental function.

Allelic Variation in HLA-DRB1 is Associated with Development of Anti-Drug Antibodies in Cancer Patients Treated with Atezolizumab that are Neutralizing in Vitro

This study identifies HLA-DRB1 and HLA-DQA1 alleles associated with anti-drug antibodies and neutralizing antibodies in atezolizumab-treated cancer patients.

FinnGen: Unique genetic insights from combining isolated population and national health register data

Finnish-enriched low-frequency variants, often coding, underlie many GWAS signals across 1,932 register endpoints in 218,792 Finns; a 15-disease meta-analysis with Estonian and UK biobanks adds 30 unreported associations.

Genome-wide association study and functional validation implicates JADE1 in tauopathy

This study identifies JADE1 as a novel genetic factor in tauopathy through genome-wide association and functional validation in human and Drosophila models.

An expanded analysis framework for multivariate GWAS connects inflammatory biomarkers to functional variants and disease

The paper introduces a multivariate GWAS framework that identifies functional variants and disease associations by transforming multivariate results into univariate phenotypes for follow-up analysis.

In silico tools for accurate HLA and KIR inference from clinical sequencing data empower immunogenetics on individual-patient and population scales

The paper evaluates computational tools for accurately inferring HLA alleles and KIR haplotypes from whole-genome or whole-exome sequencing data, showing high accuracy for both tasks.

Polygenic Risk for Skin Autoimmunity Impacts Immune Checkpoint Blockade in Bladder Cancer

The paper shows that polygenic risk scores for skin autoimmunity affect the response to immune checkpoint blockade in bladder cancer, with higher vitiligo and psoriasis scores linked to better outcomes.