Joseph Park

Systematic analysis of cellular crosstalk reveals a role for SEMA6D-TREM2 regulating microglial function in Alzheimer's disease

The paper investigates cell-to-cell communication in Alzheimer's disease to characterize disease biology and suggest new avenues for therapeutic intervention.

PPP1R3B is a metabolic switch that shifts hepatic energy storage from lipid to glycogen

This paper investigates the role of PPP1R3B in hepatic metabolism, finding it acts as a switch that promotes glycogen storage over lipid accumulation, with implications for metabolic diseases.

Whole genome sequence analysis of blood lipid levels in >66,000 individuals

The paper performs whole genome sequence analysis of plasma lipid levels in 66,329 individuals, identifying new lipid-associated alleles, including rare non-coding variants.

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.

Impact of natural selection on global patterns of genetic variation, and association with clinical phenotypes, at genes involved in SARS-CoV-2 infection.

The paper examines genetic variation and natural selection at SARS-CoV-2 host genes in diverse populations and links selected variants to clinical phenotypes in COVID-19.

Multi-trait GWAS of atherosclerosis detects novel pleiotropic loci

This study performs multi-trait GWAS on atherosclerosis-related traits to identify novel pleiotropic loci and their potential biological mechanisms.

Rare coding variants in 35 genes associate with circulating lipid levels: a multi-ancestry analysis of 170,000 exomes

This study identifies 35 genes associated with circulating lipid levels using rare coding variants from 170,000 exomes across multiple ancestries.

Multi-ancestry gene-trait connection landscape using electronic health record (EHR) linked biobank data

The paper uses multi-ancestry biobank data and integrative methods to identify gene-disease associations across different ancestry groups, finding shared and ancestry-specific genetic links.

A genome-first approach to rare variants in hypertrophic cardiomyopathy genes MYBPC3 and MYH7 in a medical biobank

The paper evaluates gene burden tests for rare variants in MYBPC3 and MYH7 using exome data and EHRs, finding differing associations between pLOF and pDM variants and HCM.

Disrupting upstream translation in mRNAs leads to loss-of function associated with human disease

The paper identifies uORF variants that disrupt upstream translation and are under strong negative selection, linking them to gene-disease associations and loss-of-function in human genes.

Exome-by-phenome-wide rare variant gene burden association with electronic health record phenotypes

This study identifies robust gene-phenotype associations by analyzing rare loss-of-function variants in exome-wide data linked to electronic health records.