Approved Research

Advancing Genomic Research: Enhancing GWAS and TWAS through Comprehensive Data Integration in the UK Biobank

Lay summary

We will investigate how variation in the genome influences diseases in the UK Biobank dataset. To understand how diseases work and what genes and proteins affect a human disease or trait, researchers search for relations between gene mutations and diseases. While currently, researchers look for associations of genomic areas or genes with traits in GWAS and TWAS methods, the results are not always accurate. One reason for the inaccuracies might be that a predicted change in mRNA abundance does not necessarily cause a change in protein abundance. So, taking this into account, to improve and extend these approaches, we plan to integrate additional data into the studies, mainly proteomics data. That will elevate the current results by providing another set of associations: between proteins and traits. The method will allow us to study the UK Biobank data from a different perspective and compare the protein-level associations with the ones from GWAS studies to prioritize and complement meaningful relationships between genetics, proteomics, and disease. We will carry out the research project on the entire set of UK Biobank samples. With this, we hope to provide important insights into disease and trait mechanics