Population genomics

Department                          Internal Medicine

Principal investigator          Jeroen van Rooij

E-mail address                      j.vanrooij@erasmusmc.nl                 

 

Investigating the shared genetic background of complex traits

Supervisor: Helen Ray-Jones, h.ray-jones@erasmusmc.nl

Large-scale Genome-Wide Association Studies (GWAS) have identified thousands of genetic signals underlying measurable blood cell phenotypes (BCPs), such as cell size, proportion and morphological response to stimulation. Many of these signals intersect GWAS loci for complex diseases, highlighting the key role of hematological processes across conditions. However, the scope of these shared genetic mechanisms remains largely unexplored. Furthermore, the biological interpretation of GWAS loci proves highly challenging. This project aims to use newly-developed computational tools to uncover and functionally annotate genetic signals influencing both BCPs and complex disease, identify potentially novel disease signals and predict causal signals. This approach will improve our understanding of the blood cell component of complex disease, with the potential to identify novel therapeutic targets.

Techniques

  • Applications and comparison of different cross-trait genetics approaches
  • Dataset curation/processing
  • Bioinformatics techniques for integrating functional genomics data in relevant cell types

Further reading

doi: https://doi.org/10.1101/2022.09.07.22279671