Australian researchers use AI to identify disease-causing genes in world-first

Xinhua
Researchers from Australia's national science agency have achieved a world-first by processing genomic data using artificial intelligence.
Xinhua

Researchers from Australia's national science agency have achieved a world-first by processing genomic data using artificial intelligence.

A team from the Commonwealth Scientific and Industrial Research Organization (CSIRO) on Wednesday revealed that it accomplished a world-first by processing one trillion points of DNA data through VariantSpark, an AI-based platform.

Denis Bauer, the head of the CSIRO's Bioinformatics Group, said that the technology could revolutionize healthcare, with AI able to analyze immense genomic datasets in a fraction of the time it currently takes.

"Our VariantSpark platform can analyse traits, such as diseases or susceptibilities, and uncover which genes may jointly cause them," he said in a media release.

"It was able to process this information in 15 hours while it would take the fastest competitors likely more than 100,000 years to process such a volume of data.

"This can provide valuable information about how the disease works on a molecular level, which can ultimately lead to better treatments.

"VariantSpark is already being used to help determine what genes might be linked to cardiovascular disease, motor neurone disease, dementia, and Alzheimer's disease."

According to a Australian Institute of Health and Welfare (AIHW) report published in August cardiovascular disease is the leading cause of death in Australia followed by dementia and Alzheimer's disease.

"Artificial intelligence is a critical component of understanding genomic information, which is increasingly being used to guide healthcare delivery in Australia and around the world," David Hansen, the chief executive of the CSIRO's Australian e-Health Research Center, said.

"Despite recent technology breakthroughs with whole genome sequencing studies, the molecular and genetic origins of complex diseases are still poorly understood which makes prediction, application of appropriate preventive measures and personalized treatment difficult."  


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