Mutational signatures of structural variation

Mutational signatures of structural variation

Project details

Simple mutational signatures in tumours have become useful tools to predict response to certain therapies, patient outcome and evolutionary pathways (e.g. Nik-Zainel et al, Nature 2016; Macintyre et al, Nature Genetics 2018; Steele et al, Cancer Cell 2019). These have been based on patterns of single nucleotide variants and, more recently, copy number variation. The latter are typically estimated with low spatial accuracy. Integration of genomic rearrangement information can dramatically increase the accuracy of these calls. 

This project will develop a new modular tool to estimate copy number with single nucleotide positional accuracy by incorporating structural variant calls into the copy number calling, and then explore a range of unsupervised learning techniques to identify improved structural variation mutational signatures. 

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: