TRIAGE: A disease agnostic computational and modelling platform to accelerate variant classification

  • Palpant, Nathan J. (Primary Chief Investigator (PCI))
  • Mallett, Andrew J. (Chief Investigator (CI))
  • Yanes, Tatiane (Chief Investigator (CI))
  • Shah, Sonia (Chief Investigator (CI))
  • Stark, Zornitza L. (Chief Investigator (CI))
  • McGaughran, Julie (Chief Investigator (CI))
  • Combes, Alex (Chief Investigator (CI))
  • Boden, Mikael (Chief Investigator (CI))
  • Atherton, John (Chief Investigator (CI))
  • Fatkin, Diane (Chief Investigator (CI))
  • Ingles, Jodie (Chief Investigator (CI))
  • Bagnall, Richard D (Chief Investigator (CI))
  • Hill, Adam (Chief Investigator (CI))
  • Bryson-Richardson, Robert (Chief Investigator (CI))
  • Harvey, Richard Paul (Chief Investigator (CI))
  • Cheetham, Seth W. (Associate Investigator (AI))
  • Nefzger, Christian (Associate Investigator (AI))
  • Giannoulatou, Eleni (Associate Investigator (AI))
  • Vandenberg, Jamie I. (Associate Investigator (AI))
  • Zeng, Jian (Associate Investigator (AI))
  • Rodgers, Jonathan (Associate Investigator (AI))
  • Foster, Matthew (Associate Investigator (AI))

Project: Research

Project Details

Project Description

This proposal develops a disease-agnostic, high throughput and scalable functional genomics platform integrating computational variant prediction and disease modelling to increase the diagnostic rate of unresolved cases and accelerate development of experimental therapeutics. We implement a novel unsupervised, disease agnostic, genome-wide computational analysis method called TRIAGE which provides predictions at single base resolution across the human genome, revealing the likelihood of a variant being pathogenic. No other methods compare with TRIAGE in identifying genes associated with developmental process and cell differentiation where variants in these loci are associated with congenital disease and multi-organ syndromes. Our team of experts across Australia’s research and clinical sectors bring skills in bioinformatics, statistical genetics, clinical genetics, and disease modelling.
Short titleTRIAGE
StatusActive
Effective start/end date1/06/2231/05/25

Funding

  • Monash University – Internal University Contribution

Keywords

  • polygenic diseases
  • genetic disorders
  • embryonic stem cells
  • disease modelling
  • bioinformatics