SEMINAR | The long and short of cancer genomics, Dr Nic Waddell

The characterization of somatic mutations through tumour genome sequencing has revolutionized cancer research, playing a crucial role in understanding tumorigenesis and identifying candidate actionable targets. In our research, we use long and short read whole genome sequencing to identify germline and somatic variants linked to tumour development and mutational processes. This talk will highlight the findings from some of our ongoing projects. These include i) testing different approaches to predict homologous recombination deficiency (HRD), a marker of PARP inhibitor treatment. Then using HRD status to aid the prediction of pathogenicity of germline BRCA1 and BRCA2 variants; ii) integrating multi-omic data from cancer patients using machine learning to discovery biomarkers, iii) for patients that do not respond to current therapies, developing alternative treatment targets using neoantigen based vaccines. The talk will also describe our experiences with the Oxford Nanopore long read sequence platform for whole genome and methylation analysis of cancer genomes. In particular how it has improved the detection of complex structural rearrangements. Together these projects support the clinical utility of genome analysis.

Dr Nic Waddell is head of the Medical Genomics Team at QIMR Berghofer. Before establishing her lab, she worked in the IMB at the University of Queensland for Sean Grimmond working within the International Cancer Genome Consortium (ICGC). Her lab is comprised of collaborative bioinformaticians who predominantly work in the field of cancer genomics. They analyse genomic data to identify prognostic biomarkers and discover new treatment targets. Nic has been continuously funded by the NHMRC since 2015, most recently with an L2 NHMRC Investigator grant which commenced in 2023. She has published in high impact journals as first/last author including in Nature, Nature Communications, Cancer Discovery and Cancer Cell, with her work cited more than 40,000 times.

This seminar will be held on October 22 in Lecture Theatre B, Level 7 VCCC in-person and via Zoom between 11:30am-12:30pm. Register via Zoom.

The seminar will be chaired by Professor Sean Grimmond and will be followed by refreshments in the Atrium.

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Host or Publisher University of Melbourne Centre for Cancer Research