The Monthly Researcher Spotlight is our section highlighting the exciting work of the UK Biobank Research Analysis Platform user community. If you would like to be featured, email ukbiobankrap@dnanexus.com.
This was simultaneously published in the May 2024 UK Biobank RAP Newsletter. You can sign up for future installments here.
This month's Spotlight features Dr. Liam Fearnley, a life science researcher investigating the early indicators of genetic disorders.
Dr. Liam Fearnley
Senior Research Officer
WEHI
What are the focus and discovery highlights of your research?
We are studying the impact of short tandem repeat (STR) expansions in the extensive phenotyping data of the UK Biobank. Our research has identified subtle phenotypic signals associated with disease that can serve as early indicators of late-onset genetic disorders, allowing us to track their progression within the population.
What are some of the key questions that you are looking to answer using UK Biobank data?
We aim to understand the diagnosis rates of STR-associated diseases and pinpoint the timing of symptom and phenotype presentation in participants. This information will help us better understand the natural history of these conditions.
How has the UK Biobank Research Analysis Platform (UKB-RAP) helped you perform your research?
Using the UKB-RAP, we have processed all 500,000 WGS CRAMs through STR detection tools. This large-scale data processing effort is only feasible on robust cloud computing platforms like the UKB-RAP.
Any tools or tutorials that you have developed that would be useful for the UKB-RAP community?
We are actively developing methods and will soon release several tools for STR quality control, analysis, and interpretation. Stay updated by following the Bahlo Lab GitHub at https://github.com/bahlolab/
