DR-337 Connecting telomere dysfunction, tumorigenesis and cancer evolution using short-read DNA and RNA sequencing data

The Barthel lab uses advanced sequencing and molecular approaches to study the development and evolution of brain tumors. We have several translational and basic science research projects in this field. Telomeres are repetitive DNA sequences at the end of chromosomes. Telomeres shorten with each cell division. When telomeres become too short, as often the case in cancer, they become dysfunctional. Dysfunctional telomeres are a catalyst for large structural DNA mutations. We will use DNA and RNA sequencing data from Hartwig Foundation dataset to characterize the consequences of telomere dysfunction in human tumors. More specifically, we will develop an algorithm to detect fused telomeres or otherwise improperly oriented telomeric repeats from paired-end short DNA reads. RNA sequencing will be used to determine if said rearrangements are impacting the transcriptome. Finally, by relating our findings to patient clinical data, we will evaluate the impact of telomere dysfunction on tumor grade and patient outcome.

Floris Barthel, The Translational Genomics Research Institute (TGen), USA