Scientists and clinicians will soon benefit from an exciting new genome sequencing platform called NovaSeq.

The new tools will give researchers a clearer and fuller picture of a patient's genetic make-up, making it easier to decode the DNA of tumours and rare cancers.

“This is the biggest chance we've got in the next five to ten years of advancing, certainly on our intractable and rare cancers,” says Professor Sean Grimmond from the University of Melbourne Centre for Cancer Research.

“What we're doing here now is drilling right down to the DNA.

“We know that different cancer types have different patterns of damage to the DNA.

“So we can use that information now to get a much higher resolution and understanding of what your tumour is and what's actually driving it.

“So as a cancer researcher, if I can decode the DNA from your tumour, I have a way of understanding what exactly went wrong in your disease.

“Then maybe I can find a way to tackle your cancer in a personalised fashion.

“I guess the onus on us now with this fantastic new tool is really to work out where that clinical utility is, and how it will actually improve different aspects of treating cancer.

“And then working out how quickly we can get that into the standard of care.”

Introduced by Illumina in January 2017, NovaSeq is a highly powerful sequencer designed to be scalable and flexible for virtually any genome, method, and scale of project.

In human disease research, the NovaSeq sequencing platform enables the study of rare genetic variations with larger sample size, greater depth and faster speed, and accelerate the progress of global precision medical research.

NovaSeq can sequence up to 48 human whole genomes, producing 6Tb of data, per single run as short as 40 hours.

NovaSeq's high capacity and efficiency is enabled by computing power of 878T flops, total memory of 368TB, and total storage of 29PB.

More information on its use in Australia is available here.