Health
Trillion data points to identify the genes responsible for the disease
Researchers at Australia’s national scientific institute, CSIRO, achieved the world’s first by processing 1 trillion points of genomic data via VariantSpark, an artificial intelligence-based platform. This helps to locate the genes responsible for a particular disease in the human genome.
The human genome is a complete set of human DNA, containing over 3 billion DNA base pairs.
Dr. Dennis Bauer, leader of the CSIRO bioinformatics group, said that by analyzing vast genomic data sets, artificial intelligence (AI) could gain a deeper understanding of complex diseases in a shorter time than traditional approaches. Said.
“Our VariantSpark platform can analyze characteristics such as disease and susceptibility to determine which genes together cause them,” Dr. Bauer said.
“This can provide valuable information about how the disease works at the molecular level, which could ultimately lead to better treatment.
“VariantSpark is already being used to help determine which genes may be associated with cardiovascular disease, motor neuron disease, dementia, and Alzheimer’s disease.”
In a new study published in the technical journal Giga Science, researchers analyzed a synthetic dataset of 100,000 people powered by Amazon Web Services (AWS).
Dr. Bauer states that there was no other technology platform that could handle 1 trillion data points of genomic data, more than 10 million variants, and 100,000 samples at once.
“Our research shows that VariantSpark is the only way to scale to ultra-high-dimensional genomic data in a manageable amount of time,” Bauer said.
“We were able to process this information in 15 hours, but it could take the fastest competitors over 100,000 years to process such a large amount of data.
“This is an important milestone that means we can extend VariantSpark to analyze population level datasets and drive better health outcomes.”
AI technology is crucial to the future of healthcare in Australia, said Dr David Hansen, CEO of CSIRO’s Australian Center for eHealth Research.
“Artificial intelligence is a key element in understanding genomic information and is increasingly used to guide healthcare delivery in Australia and around the world,” said Hansen.
“Despite recent advances in technology with whole-genome sequencing studies, the molecular and genetic origins of complex diseases are not yet fully understood, and predictions, application of appropriate preventive measures and individualized treatment Has become difficult.”
VariantSpark was developed by CSIRO’s Digital Health Research team at the Australian eHealth Research Center with the support of CSIRO’s Digital Specialist Arm, Data61.
Also, one of the first machine learning-based health products to give researchers around the world access to the critical data available on the AWS Marketplace that is critical to developing therapeutics and accelerating research capabilities. There is.
VariantSpark can be downloaded from the following site. AWS Marketplace
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