Ioanna Tzoulaki

Plasma proteomics provides a unique opportunity to enhance disease prediction by capturing protein expression patterns linked to diverse pathological processes. Leveraging data from 2,923 proteins measured in 53,030 UK Biobank participants,…

Abstract Several cardiovascular (CV) traits and diseases co-occur with Alzheimer’s disease (AD). We mapped their shared genetic architecture using multi-trait genome-wide association studies. Subsequent fine-mapping and colocalisation high…

The identification of rare coding or splice site variants remains the most straightforward strategy to link genes with human phenotypes. Here, we analyzed the association between 137,086 rare (minor allele frequency (MAF) <1%) coding or spl…