Ultra-fast sequencing
Nostos Genomics algorithms accelerate genome analysis from 12 hours to two minutes
Stepan Ikaev, Hi-tech+
The British startup Nostos Genomics has developed an AI for the rapid decoding of genetic diseases. The company uses an algorithm-driven cloud platform to analyze the genome of patients and identify gene variants that cause intractable diseases. According to the developers, the system works an order of magnitude more accurately than qualified specialists, and reduces the traditional analysis process from 12 hours to two minutes.
According to BI, in order to make an accurate diagnosis, doctors send the patient's blood or saliva to a laboratory where DNA is sequenced. The result of this process is a very large file in which all DNA mutations are listed in comparison with the reference indicators of the average person. At the same time, not all deviations in DNA indicators indicate genetic diseases — geneticists are usually responsible for detecting anomalies.
"It's actually quite a complicated process, because if you sequenced your DNA or my DNA, we would find about 4 million differences. The difficulty here is to really understand which of these 4 million differences actually matter and affect your health, cause diseases or put you at risk of certain complications," explained Rocio Acuña Hidalgo, co—founder and CTO of Nostos Genomics.
Hidalgo said that at this moment a startup is being connected to the analysis process. Nostos Genomics uploads patient DNA data to its platform and transfers the rest of the work to machine learning algorithms. The AI was trained on data on more than 10 thousand diseases and sequencing results of tens of thousands of real patients.
The platform annotates the data, checking how common the found mutation is. Then the received information is processed by a second "layer" of algorithms that simulate a manual analysis process. The difference between a human and a machine here is that AI does not need interruptions, works an order of magnitude faster and technically cannot miss an important line in the description of DNA.
At the output, Nostos Genomics creates a list of found deviations that "may cause a particular disease", and also displays a block of confidence indicators. The latter allow you to find out how much evidence and data is behind the new forecast of the platform. At this point, the work of Nostos Genomics does not end — then the startup uses another algorithm.
At the last stage, the final set of algorithms is launched, which combines mutations that cause diseases with clinical data. For example, the platform processes information about why a patient went to a doctor for genetic testing in order to rank mutations and understand which of them is most likely associated with a real disease.
The startup claims that its approach increases the availability of testing and reduces the likelihood of incorrect diagnosis. Now Nostos Genomics cooperates with several private clinics and public hospitals in Europe. The other day, the developers of the platform raised $ 5.6 million in venture financing and intend to enter the American market soon.
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