Jason H. Karnes

The paper performs large-scale GWAS and RVAS on 392,030 whole genomes from All of Us, identifying 49,863 associations and 193 novel pLoF gene-phenotype links through meta-analysis with UK Biobank.

This study performs a phenome-wide association analysis of APOE alleles in the All of Us Research Program, identifying significant associations with various health outcomes and highlighting sex and ancestry differences.

The paper assesses pharmacogenomic variation and medication exposures in a diverse cohort using whole genome sequencing and EHR data, finding high prevalence of actionable variants and previously unreported alleles.

This study identifies issues with ABO blood type determination using tSNPs across diverse ancestries and validates findings in the All of Us Research Program.

The paper analyzes pathogenic variant frequencies in the All of Us cohort by ancestry, revealing disparities and potential biases in genomic data.

This study identifies common genetic variants associated with pulmonary arterial hypertension risk and survival, focusing on HLA-DPA1/DPB1 and a SOX17 enhancer locus.