In " UKB-RAP Researcher Spotlight "
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 firstname.lastname@example.org.
This was simultaneously published in the November 2023 UK Biobank RAP Newsletter. You can sign up for future installments here.
Jie Liu, MBBS, MPH
PhD candidate, Kelly Bolton Lab
Washington University in St. Louis
What are the focus and discovery highlights of your research?
Clonal hematopoiesis (CH) is a mutation in hematopoietic stem or progenitor cells that leads to a selective advantage of the mutant clone; while common in older individuals, it is a risk factor for the development of hematologic cancer. Inherited factors are known to be important in the development of cancer, yet our understanding of how inherited genetics influences early carcinogenesis is limited. Our research has identified new CH predisposition genes and showed that inherited genetic risk factors act synergistically with CH to lead to the development of hematologic cancer.
Findings from this work will be presented as an oral presentation at the 65th ASH annual meeting this year:
Title: Genetic Determinants of Clonal Hematopoiesis and Progression to Hematologic Malignancies in 479,117 Individuals
Session: Clonal Hematopoiesis, Aging and Inflammation: From Omics to Discoveries
Time: December 11, 2023 at 2:45 PM
What are some of the key questions that you are looking to answer using UK Biobank data?
Through joint profiling of germline genetic variation and CH, we sought to identify genes that predispose individuals to develop CH. We also wanted to understand how these inherited genetic factors might influence the likelihood of CH progression to hematologic cancer. With the UK Biobank dataset, our work has provided unique biological insights into the genetic determinants of hematologic cancer and we hope will inform the development of novel prevention/early intervention strategies.
How has the UK Biobank Research Analysis Platform (UKB-RAP) helped you perform your research?
The UKB-RAP platform dramatically increased throughput for running our CH calling pipeline over a traditional HPC environment.