Genomic rearrangement detection with third generation sequencing technology

Genomic rearrangement detection with third generation sequencing technology

Project details

Cancer, along with other genetic diseases, can be caused by genomic rearrangements or structural variants (SVs). This project will build on previous state-of-the-art bioinformatics methods developed in the lab to detect such mutations (Garsed et al, Cancer Cell 2014, 26(5):653-67; Cameron et al, Genome Research 2017, 27:2050; Cameron et al Nature Commun 2019, 10:3240; Cameron et al, Genome Biology 2021, 22:202 ). It will involve developing algorithms to integrate new long read sequencing technology such as Oxford Nanopore sequencing, as well as Genomics 10X linked reads or Bionano Genomics optical maps, into SV calling. 

This project would suit a student with a background in computer science, mathematics or statistics and an interest in algorithm development. You will have the opportunity to be involved in major national and international cancer genomics projects. 

About our research group

The Papenfuss lab undertakes computational biology and bioinformatics research in the Bioinformatics division at WEHI.  

We develop and apply mathematical, statistical and computational approaches to make sense of different types of omics data from cancer and other diseases in order to drive discoveries. A key focus of the lab is using computational approaches to understanding how cancers are initiated and evolve as they progress and adapt to new environmental niches and in response to therapy.  


Email supervisors



Professor Tony Papenfuss

Tony Papenfuss
Laboratory Head; Leader, Computational Biology Theme
Daniel Cameron
Bioinformatics division
Dr Justin Bedo
Bioinformatics division

Project Type: