Jeremy Schwartzentruber

The paper validates an Alzheimer's disease-associated SNP in PTK2B that alters microglial function through changes in chromatin accessibility and gene expression.

FlexRV improves gene discovery for complex traits by modeling nonlinear relationships between variant annotations and phenotypes, outperforming existing methods in association detection and replication.

The paper identifies 995 genes with shared genetic links to age-related diseases using GWAS data and presents them in a web tool for drug target prioritization.

The paper develops GASPACHO to identify dynamic eQTLs in antiviral responses using single-cell RNA-seq, uncovering thousands of eQTLs and linking them to disease risk loci.

The paper introduces GenIE-ATAC, a medium-throughput method to screen regulatory variants' effects on chromatin accessibility, validating causal variants and extending analysis tools.

The paper uses network-based expansion of GWAS results to identify pleiotropic gene modules linked to multiple traits and demonstrates their application in studying inflammatory bowel disease.

The paper defines a standard format for GWAS summary statistics to improve data sharing and analysis.

This study uses multi-ancestry Mendelian randomization to identify six protein targets for COVID-19 severity, showing ancestry-specific effects.

The paper profiles gene expression in human microglia from 141 patients, identifies population shifts in acute brain injury, maps eQTLs, and fine-maps Alzheimer's risk variants using hIPSC-derived macrophages.

Meta-analysing UK Biobank family-history GWAS with diagnosed-AD GWAS yields 37 loci, four novel (NCK2, TSPAN14, SPRED2, CCDC6); fine-mapping, colocalisation and network scoring prioritize causal genes.

This study identifies 13 genome-wide significant loci associated with SARS-CoV-2 infection or severe COVID-19 through a global meta-analysis of 49,562 patients.

The paper presents an open resource for fine-mapping and gene prioritization at GWAS loci, identifying causal variants and genes and improving drug target identification.

This study evaluates very low depth whole genome sequencing for complex trait association studies, showing it can efficiently discover association signals comparable to imputed GWAS chip designs.

The paper maps regulatory variants in iPSC-derived sensory neurons, identifying genetic influences on gene expression, chromatin accessibility, and RNA splicing, with overlaps to disease associations.

This paper conducts a genome-wide association study on developmental dysplasia of the hip using national clinical audit data, identifying genetic loci associated with the condition and demonstrating a scalable recruitment strategy.