Advanced methods for genomic rearrangement detection

Advanced methods for genomic rearrangement detection

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 (Cameron et al, Genome Research 2017, 27:2050; Cameron et al, bioRxiv 2020.02.27.967240).  You will contribute to a suite of methods to identify chromosomal rearrangements and to make sense of cancer genome sequencing data.

This project could cover:

  1. Integrating linked read, long read data, and optical mapping data into a caller
  2. Single nucleotide resolution copy number detection
  3. Germline event classification
  4. Detecting structural variants from genome graphs

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

About our research group

The Papenfuss Lab is a computational biology and bioinformatics research laboratory in the Bioinformatics Division at the Walter and Eliza Hall Institute of Medical Research. We apply mathematics, statistics and computational approaches to make sense of genomics data from human disease, especially related to the evolution of cancer.


Email supervisors



Professor Tony Papenfuss

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

Project Type: