Josef Coresh

Genetic effects on serum and urine metabolites across ancestries and their links to disease

This study identifies mQTLs for serum and urine metabolites across ancestries, revealing ancestry-specific genetic effects and linking them to disease traits.

Machine learning cross-platform proteomic imputation enables protein quality scoring and replication of epidemiological associations

This paper develops a machine learning framework to impute cross-platform proteomic data, improving replication of epidemiological findings and protein quality scoring.

Human Plasma Proteomic Profile of Clonal Hematopoiesis

The paper identifies plasma proteins associated with clonal hematopoiesis and links them to cardiovascular disease through proteomic and genetic analyses.

cpiVAE: Robust and Interpretable Cross-Platform Proteomics Imputation

cpiVAE improves cross-platform proteomics imputation between Olink and SomaScan, achieving higher correlation than KNN and WNN, and enabling better phenotype associations.

Synapse protein signatures in cerebrospinal fluid and plasma predict cognitive maintenance versus decline in Alzheimers disease

CSF YWHAG:NPTX2 synapse protein ratio, from proteomics of 3,416 individuals across six cohorts, explains cognitive impairment beyond amyloid and tau and predicts decline (hazard ratio 15.4).

Genomic and phenotypic correlates of mosaic loss of chromosome Y in blood

The paper identifies genetic and phenotypic correlates of mosaic loss of chromosome Y in blood using whole genome sequencing data from the TOPMed program.

Ancestrally diverse genome-wide association analysis highlights ancestry-specific differences in genetic regulation of plasma protein levels

The paper identifies ancestry-specific and shared genetic regulators of plasma proteins in European and African populations, revealing novel causal relationships and shared pQTLs.

A Polygenic Score for Reduced Kidney Function and Adverse Outcomes in a Chronic Kidney Disease Cohort

The paper assesses if a polygenic score for reduced kidney function predicts adverse outcomes in chronic kidney disease patients, finding significant associations but no improvement in prediction over existing risk equations.

Plasma proteome analyses in individuals of European and African ancestry identify cis-pQTLs and models for proteome-wide association studies

The paper identifies cis-pQTLs and develops models for proteome-wide association studies using plasma proteome data from European and African ancestry populations.

Mitochondrial DNA Copy Number (mtDNA-CN) Can Influence Mortality and Cardiovascular Disease via Methylation of Nuclear DNA CpGs

This study identifies CpGs associated with mtDNA-CN and shows they influence disease-related phenotypes through nDNA methylation and gene expression changes.

Polygenic Risk Scores for Kidney Function to the Circulating Proteome, and Incident Kidney Diseases: the Atherosclerosis Risk in Communities Study

This study develops a polygenic risk score for eGFR and shows its association with kidney disease outcomes and plasma proteins in the ARIC study.

Multiethnic catalog of structural variants and their translational impact for disease phenotypes across 19,652 genomes

The paper catalogs structural variants across 19,652 genomes and identifies their associations with proteomic measurements and disease phenotypes.

Kidney Function and Blood Pressure: A Bi-directional Mendelian Randomisation Study

This study uses Mendelian randomisation to show higher kidney function causally lowers blood pressure, but blood pressure does not significantly affect kidney function.

A Comprehensive Evaluation of the Genetic Architecture of Sudden Cardiac Arrest

This study evaluates the genetic architecture of sudden cardiac arrest through GWAS and Mendelian randomization, finding genetic correlations with CAD, height, BMI, and electrical instability traits.