DNA sequencing

Main article: DNA (Deoxyribonucleic acid)

Genetic passports

Main article: Genetic passports

2023

The first device in Russia has been created that synthesizes thousands of DNA fragments

Scientists of the five institutes of the Siberian Branch of the Russian Academy of Sciences (SB RAS) have created the first device in Russia that synthesizes thousands of DNA fragments. Alexander Sinyakov, a leading researcher at the Institute of Chemical Biology and Fundamental Medicine of the SB RAS, spoke about this in mid-November 2023.

Currently, hundreds of thousands and millions of oligonucleotides are needed to identify various kinds of pathogens with the so-called new sequencing technique. In order to isolate the targets of known viruses, millions of oligonucleotides are needed. If done on traditional synthesizers, it is very long and expensive, - said Sinyakov in an interview with TASS.

A device has been created that synthesizes thousands of DNA fragments

Oligonucleotides are short fragments of DNA or RNA consisting of several nucleotides. They are often applied in biochemistry, genetic engineering, and molecular biology. Synthetic oligonucleotides are used to study nucleic acids, create diagnostic systems and therapeutic preparations.

Oligonucleodite synthesis takes place in an automatic synthesizer that adds nucleotides in the right order to the growing molecular chain. Russian experts have created a microchip synthesizer that can create about 12 thousand oligonucleotides.

During the synthesis, a process called photolithography is used - the surface of the plate is illuminated using ultraviolet light. The computer controlling the synthesis process generates virtual photomasks with which certain fragments of a glass plate are illuminated. In the place where the light falls, the nucleotide is sewn. Further, this cycle of oligonucleotide chain expansion is repeated.

Scientists plan to improve the synthesizer and develop cooperation with large centers in the fields of biosafety, personalized medicine, genetic engineering.^[1]

The first Russian DNA sequencer enters the market

The Institute of Analytical Instrumentation of the Russian Academy of Sciences, together with the research and production company "," Synthol has completed the development of a domestic sequencer for mass parallel sequencing. DNA The device is called "Nanophore SPS," works on the principle of sequencing by synthesis on a domestic reagent compatible with reagents. Illumina This was reported in "Sintol" at the end of June 2023. More. here

Scientists make breakthrough in whole gene sequencing to help understand cancer

In mid-February 2023, the results of the study were released, which can help in the fight against malignant formations. The project is called Verkko. Read more here.

2022

Genome decoding technology created in Russia

At the end of October 2022, it became known about the creation by Gamma-DNA of a 5th generation DNA sequencer that determines the nucleotide (genetic) sequence of DNA or RNA. According to the developers, the technology will help to find the causes of diseases faster and cheaper, determine the methods of their treatment, and will also help solve a number of issues in pharmacagenomics and precision oncology. In addition, the technology will allow ectopic fertilization (IVF) to be several times cheaper. Read more here.

AI system sequenced human DNA in 5 hours

In mid-February 2022, a Stanford University-led research team set a new Guinness World Record for the fastest human DNA sequencing technique using AI calculations to speed up workflow.

The study, led by Dr. Euan Ashley, a professor of medicine, genetics and biomedical data at Stanford School of Medicine, in collaboration with Nvidia, Oxford Nanopore Technologies, Google, Baylor College of Medicine and the University of California, allowed sequencing in just five hours and two minutes.

Stanford University-led research team sets new Guinness World Record for fastest human DNA sequencing technique

In the study, the team tested an accelerated genome sequencing method on undiagnosed patients in intensive care units at Stanford Hospitals. In total, 12 patients participated in the study, one patient was diagnosed in a record short period, in four other cases it took just under eight hours to establish a diagnosis.

The study, whose findings are published in the New England Journal of Medicine, involved speeding up each step of the genome sequencing workflow through the use of new technologies. The scientists realized the possibility of sequencing with a long reading of the DNA sequence, which allows for more accurate readings. The scientists also used a new device consisting of 48 sequencing blocks called flow cells. The sequencing process can be substantially accelerated by using all 48 flow cells simultaneously to scan the genome of one patient.

The researchers believe that reducing DNA sequencing time will allow clinicians to diagnose patients faster and deliver personalized treatments. The previous Guinness world record for DNA sequencing was set by the Rady Children's Institute of Genomic Medicine, which took 14 hours.^[2]

World's fastest genome sequencer developed

In mid-January 2022, it became known that the world's fastest sequencer had been developed. genome The method created by the medical school Stanford University allows sequencing of the human genome and diagnosing genetic diseases in just a few hours, usually the process takes several weeks.

The researchers tested the technique on 12 patients with different symptoms that could not be linked to specific causes and were suspected of rare genetic diseases. All 12 people had their genomes sequenced, and five of them ended up being diagnosed with genetic diseases, an average of eight hours.

World's fastest genome sequencer developed

In the fastest case, it took only five hours and two minutes to sequence the patient's genome, which was noted in the Guinness Book of Records for the title of the fastest method of sequencing deoxyribonucleic acid (DNA). A diagnosis of the genetic disease followed, with sequencing and diagnosis taking just seven hours and 18 minutes, which the team of scientists said was nearly half the size of the previous record holder. The speed of the method is provided by several important achievements. First, it uses long-print sequencing, which scans DNA sequences tens of thousands of base pairs long, allowing for more accurate prints.

Mutations that occur on a large section of the genome are easier to detect by long-fingerprint sequencing. There are options that would be almost impossible to detect without using any long-read approach, "said professor and senior author Euan Ashley.

Another discovery was a device consisting of 48 sequencers called flow cells. Sequencing can be significantly accelerated by using all 48 flow cells simultaneously to scan a single patient's genome. However, this created new problems as huge amounts of data were generated. The team developed a way to transfer data to the cloud storage system and used algorithms to scan DNA sequences for mutations. Once they were noted, the scientists compared these mutations to those known to cause disease. The researchers say there is still room to improve this approach and reduce time.^[3]

2021

R-Pharm registers NextSeqTM550 Dx sequencer in Russia

On March 16, 2021, the R-Pharm Group announced the completion of registration in the Russian Federation of the Next Generation Sequencing (NGS) complex of equipment for last-generation sequencing (Next Generation Sequencing, NGS), developed by a representative in the field of genetic research Illumina. The final stage of registration at the end of January 2021 was the receipt of marketing authorizations for the NextSeqTM550 Dx sequencer. Read more here.

R-Pharm has registered a comprehensive solution in the field of MiSeqDx sequencing in Russia

On January 15, 2021, the R-Pharm group of companies announced the registration of a set of MiSeq Dx v3 reagents for nucleic acid sequencing in the Russian Federation. Read more here.

2020: Announcement of iGenomics - mobile DNA analyzer

In early December 2020, Cold Spring Harbor Laboratory (CSHL) scientists developed the world's first mobile genome sequence analyzer. The new iPhone app is called iGenomics and can be used in the field by pandemic and environmental experts. Read more here.

2019: All newborns in Britain will be given genome sequencing

In early November 2019, UK Health Secretary Matt Hancock announced that all British newborns will be given genome sequencing.

Hancock said genome sequencing would be offered alongside standard newborn screenings. The purpose of this study is to determine the risk of genetic diseases and to offer personalized care in advance. Ministers have promised the service will be available to all children with malignancies by the end of 2019.

UK Health Secretary Matt Hancock said all British newborns will be given genome sequencing

The same examinations are planned for adults with rare diseases and difficult-to-treat malignancies. The 100,000 Genomes Project was launched by David Cameron in 2012 in memory of his son Ivan, who died in 2009 from a rare neurological disorder. The goal was achieved in December 2018. It is estimated that over the next five years, another 5 million people will be examined in the UK.

Of course, such information can become the basis for the study of rare diseases, but not all parents are ready to find out what risks await their child. However, at the Genomics England conference, Hancock expressed confidence that genome sequencing, along with other standard surveys, will enable the detection of rare diseases at the earliest stages and avoid many problems in the future.

We will give every child the best ticket to life imaginable - we will provide him with the best medical care from birth. Predictive, preventive, personalised healthcare is the future of the UK health system. I'm sure genome sequencing and genomics will play a huge role in this future, "Hancock said.

DNA studies

When choosing a sport

Choosing a sport, but just doing physical education, we do not always know which exercises are useful for us, and which are best avoided. All this depends on our metabolism, on the tendency to various diseases, and therefore on the activity of enzymes and hormones, and, therefore, on the nucleotide sequence of our DNA.

And by choosing the appropriate section for the child or for yourself, appropriate tests can be done. DNA research reveals metabolic features, and the degree of sensitivity to various medicines and allows you to choose a sport that will bring medals in the future, or simply choose a set of exercises that will help maintain and improve health.

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