Peter VandeHaar

The Michigan Genomics Initiative: a biobank linking genotypes and electronic clinical records in Michigan Medicine patients

The Michigan Genomics Initiative links genotypes with electronic clinical records in Michigan Medicine patients, showing higher disease prevalence and validating GWAS findings.

Genome-wide association study of 1,391 plasma metabolites in 6,136 Finnish men identifies 303 novel signals and provides biological insights into human diseases

This study identifies 303 novel genetic signals associated with plasma metabolites in Finnish men, revealing biological insights into disease mechanisms.

A powerful subset-based gene-set analysis method identifies novel associations and improves interpretation in UK Biobank

GAUSS identifies gene-set-phenotype associations using GWAS summary statistics, improving power and interpretability in UK Biobank data.

LocusZoom.js: Interactive and embeddable visualization of genetic association study results

LocusZoom.js provides an interactive web-based tool for visualizing genetic association study results with customizable views and integration of biological data.

FIVEx: an interactive multi-tissue eQTL browser

FIVEx is an interactive eQTL browser that helps interpret tissue-specific genetic variants using GTEx data.

Cancer PRSweb - an Online Repository with Polygenic Risk Scores (PRS) for Major Cancer Traits and Their Phenome-wide Exploration in Two Independent Biobanks

The paper introduces Cancer-PRSweb, an online repository of polygenic risk scores for cancer traits, evaluated in two biobanks with predictive performance metrics and phenome-wide association studies.

UK-Biobank Whole Exome Sequence Binary Phenome Analysis with Robust Region-based Rare Variant Test

The paper develops a region-based rare variant test for unbalanced binary phenotypes, showing improved type I error control and scalability, and identifies 10 rare variant associations in UK Biobank whole exome data.

Exploring Various Polygenic Risk Scores for Skin Cancer in the Phenomes of the Michigan Genomics Initiative and the UK Biobank with a Visual Catalog: PRSWeb

This study constructs and evaluates polygenic risk scores for skin cancer subtypes using the Michigan Genomics Initiative and UK Biobank data, and develops a visual catalog to compare PRS methods.

Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies

This paper introduces SAIGE, a method that improves the accuracy of genetic association tests in unbalanced case-control studies by using saddlepoint approximation, and demonstrates its effectiveness on UK Biobank data.