To the Guinness Book of Records
The new technique completely sequences the human genome in 8 hours instead of weeks
Georgy Golovanov, Hi-tech+
Genome sequencing allows scientists to see the full composition of the patient's DNA. For the diagnosis of patients with hereditary diseases, this is an extremely useful tool. Right now, for the most urgent sequencing of a patient's genome, clinics need several weeks. A new emergency method developed by American scientists allows you to get a result in an average of eight hours. And the best time is 5 hours and 2 minutes.
Scientists from Stanford University and their colleagues from Oxford have invented and built a new device for the accelerated sequencing method, consisting of 48 sequencing elements, the so-called flow cuvettes. The idea of the developers was to process the genome of one person simultaneously with all cuvettes. This approach turned out to be successful — even too much, since the laboratory's computing system almost choked on the amount of data, according to the press release of the Fastest DNA sequencing technique helps undiagnosed patients find answers in mere hours.
Therefore, researchers had to rethink and rebuild data management and storage systems. Now they are sent directly to the cloud storage, where there is enough computing power to sift through information in real time. Algorithms scan the incoming genetic code for errors that can cause diseases, and in the end, scientists compare the variants of patients' genes against databases of known diseases.
For six months, a team of scientists sequenced the genome of 12 patients, five of whom were diagnosed in about one working day. (Not all diseases have a genetic origin, so the rest of the patients did not receive a diagnosis based on sequencing.)
Nevertheless, the diagnostic efficiency was approximately 42%, which is 12% higher than the average diagnosis rate in incomprehensible cases.
In one of the cases, sequencing was carried out in just 5 hours and 2 minutes — this achievement will fall into The Guinness Book of Records. It was confirmed by the National Institute of Science and Technology. And the total diagnostic time in this case was 7 hours and 18 minutes, which, according to scientists, is about twice as fast as the previous record set by the Pediatric Institute of Rady (USA) — 14 hours.
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