A research team led by Stanford University has set a new world record, registered by the Guinness Book of World Records, for the fastest DNA sequencing technique. How? ‘Or’ What ? By using artificial intelligence to accelerate the speed of the workflow. This groundbreaking research project was developed in collaboration with Nvidia, Oxford Nanopore Technologies, Google, Baylor College of Medicine and the University of California, and pushed the frontiers of genetics by performing DNA sequencing in just five hours and two minutes.
The study, published in The New England Journal of Medicine, consisted of accelerating each step of genome sequencing by relying on new technologies. These included using nanopore sequencing on Oxford Nanopore PromethION Flow Cells to generate more than 100 gigabases of data per hour, and Nvidia GPUs on Google Cloud to accelerate core call and variant call. “We had to completely rethink and reorganize our data pipelines and storage systems,” say the researchers behind this major scientific breakthrough.
The latter also relied on the Nvidia Clara Parabricks computational genomics application framework to accelerate genome diagnosis. “It was just one of those amazing moments when the right people suddenly came together to achieve something amazing,” they say. “I really felt like we were approaching a new frontier,” says Euan Ashley, professor of medicine, genetics and biomedical data science at Stanford, in charge of the project.
New breakthroughs to come?
For the study, the team tested the accelerated genome sequencing technique on undiagnosed patients in intensive care units at Stanford hospitals. A total of 12 patients enrolled and had their genome sequenced. Of this total, five patients received rapid feedback on their genetic diagnosis. In one case, it only took five hours and two minutes.
Researchers believe that reducing DNA sequencing time would allow clinicians to diagnose patients and provide appropriate treatments more quickly. The previous Guinness World Record for DNA sequencing was 14 hours, held by the Rady Children’s Institute. The team is now looking to cut that time even further, believing it could be halved again.
“I think we can still cut it in half,” argues Euan Ashley. “If we do that, we’re talking about being able to get a response before the end of a hospital ward visit. It is a spectacular leap. »
Source: ZDNet.com