Developing and benchmarking models for multi-omics single-cell quantitative trait locus mapping in complex diseases
Dr Davis McCarthy and Dr Heejung Shim
School / Faculty:
School of Mathematics and Statistics - Biosciences
Faculty of Science
I work at the intersection of data science, bioinformatics, and biology employing my skills as a Bioinformatician and Biotechnologist for a comprehensive understanding of the genetic basis of complex diseases.
My Ph.D. research employs single-cell multi-omics technologies, which combine information from multiple levels of biology to provide important insights into genetic architectures and disease mechanisms. I am developing statistical methods to improve our understanding of how genetic variation affects disease risk by identifying “multi-omic” molecular quantitative trait loci i.e., regions of the genome associated with phenotypes of interest. Mapping associations between genes and disease is incredibly important to help us improve diagnosis, and treatment, and, ultimately, focus on preventative care. Through my research, I want to provide the much- needed methods to link genetic variation to molecular phenotypes relevant to disease biology at single-cell resolution.
Q & A
Why did you decide to do a PhD?
I have always been interested in understanding why some of us are diagnosed with certain diseases, my dissertation as an undergraduate, analysing large amounts of clinical data opened my eyes to the excitement and wider benefit of data science and disease biology. Motivated by my undergraduate work I moved on to do a master’s in bioinformatics and further decided to do a PhD as I really enjoyed my academic work so far and wanted to offer more as an independent researcher.
What do you enjoy reading?
I mostly enjoy reading fiction when I am not reading the latest research papers in my area.
What do you enjoy doing when you're not working on your PhD?
When I am not working on my PhD, you will find me exploring new places to eat and shop.
Name one fun fact about you.
If I could have any superpower, it would be to speak any language so I could connect with anyone in the world.