In " UKB-RAP Researcher Spotlight "
The Monthly Researcher Spotlight is our new section highlighting the exciting work of the UK Biobank Research Analysis Platform user community. If you would like to be featured, email firstname.lastname@example.org.
This was originally published in the January 2023 UK Biobank RAP Newsletter. You can sign up for future installments here.
Ariel Precision Medicine
What are the focus and discovery highlights of your research?
My work focuses on diseases of the Pancreas. As the pancreas has 2 main roles in the body (digestion and blood glucose regulation), it is an ideal organ for precision medicine research. We have already found a number of comorbidities in this dataset that pancreas researchers have overlooked (PMID: 35060944) and have also replicated known GWAS findings related to Acute and Chronic Pancreatitis.
What are some of the key questions that you are looking to answer using UK Biobank data?
We are currently writing up our GWAS results and exploring rare variant analysis using the WES dataset, working with a co-investigator on pancreatic fat imaging and how it relates to fatty liver disease, exploring the applications of polygenic risk scores in pancreatic disease and finally we are eagerly awaiting release of the full WGS data to explore the non-protein coding regions of several genes related to pancreatic exocrine function.
What inspires you to contribute your tools/tutorials to the research community? Any tools or tutorials that you have developed that would be useful for the UKB-RAP community?
There can be a very large learning curve when moving to analysis on cloud platforms compared to either a local computer or local HPC system. I also try to be an active participant on the community forum because research shouldn't happen in a vacuum. I have a repository on github (https://github.com/pjgreer/ukb-rap-tools) where I publish all the tools I use on the UKB. These tools focus on the use of DX toolkit as a substitute for submitting jobs on an HPC using pbs or slurm. I will be adding more tools as time permits and I get closer to finishing each project.