Best tools for pinpointing disease drivers

Best tools for pinpointing disease drivers

Illuminate newsletter index page, September 2019
September 2019

Professor Tony Papenfuss and Dr David Cameron
Professor Tony Papenfuss (right) and Dr Daniel Cameron
help researchers make sense of complex datasets.

A new study has determined the world’s top tools for identifying drivers of disease in a patient’s DNA.

Accurately pinpointing rearrangements in the genome of a patient with a disease versus that of a healthy person is vital for understanding how illnesses occur and how best to treat them.

The benchmarking study revealed the best genomic rearrangement detection tools available and provided summaries on their performance and recommendations for use.

The research was led by the Institute’s Computational Biology theme leader  Professor Tony Papenfuss, along with Dr Daniel Cameron and Mr Leon Di Stefano.

Making sense of data

Professor Papenfuss said computational methods were required, more than ever before, for making sense of vast and complex datasets being generated from research.

“Computational biology is playing an increasingly important role in basic and translational research. Studies like this one keep the field up to date with gold standard approaches for data analysis," Professor Papenfuss said.

Dr Cameron said the study could ultimately help clinicians determine the best treatments for their patients.

“In the context of cancer for instance, an understanding of genetic mutations driving tumour growth could help oncologists determine the most appropriate treatment for their patients,” Dr Cameron said.

Super Content: 
Doctor talking to a patient (obscured) in a clinic

A $3 million gift from the Stafford Fox Medical Research Foundation will ensure that Australians with rare cancers benefit from new approaches to diagnosis and treatment.

Researcher standing with arms folded looking at camera, standing in front of computer servers

Researchers have uncovered how massive DNA molecules that appear in some rare cancers form, explaining how the tumours 'steal' and amplify genes to ensure their own survival.

Two bioinforaticians at a computer

Bioinformatics combines mathematics, statistics and computer science to solve complex biological problems.