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 June 2024 UK Biobank RAP Newsletter. You can sign up for future installments here.
This month's Spotlight features Vanesa Getseva, a life science researcher investigating the genetic and environmental influences on germline mutations. The work described below is in collaboration with Ipsita Agarwal, postdoctoral researcher in Simon Myers’s group at the University of Oxford.
Vanesa Getseva
PhD candidate
Molly Przeworski's lab, Columbia University
What are the focus and discovery highlights of your research?
Germline mutation rates differ among individuals, because of parental ages and potentially genetic and environmental effects. We are interested in learning more about the sources of this variation. To this end, we are developing novel statistical approaches that leverage relatedness in large genomic datasets such as the UK Biobank to learn about mutation phenotypes.
What are some of the key questions that you are looking to answer using UK Biobank data?
We hope to test for genetic and environmental effects on germline mutation rates in order to assess the importance of mutator alleles in humans, and to examine the extent to which the germline is protected from mutagens.
How has the UK Biobank Research Analysis Platform (UKB-RAP) helped you perform your research?
The UKB-RAP is well-documented and facilitates seamless access to petabytes of data. Using this platform, we have processed 200K whole genomes with preloaded bioinformatics toolkits through Swiss Army Knife. Additionally, we have predicted the functional effects of genomic variants of interest using the preinstalled VEP plugin in JupyterLab with Spark Cluster, among other examples.
Any tools or tutorials that you have developed that would be useful for the UKB-RAP community?
Upon publication, we will make our bioinformatics pipelines publicly available in repositories such as GitHub (https://github.com/vanesagetseva).