From Sequencing to Developing a Cardio Panel: How the Summer School on Cardio Genetics Went

From 19 to 29 of august, the Faculty of Computer Science's Center for Continuing Education at the National Research University Higher School of Economics, together with the Institute of Analytical Instrumentation of the Russian Academy of Sciences, the Institute of Spectroscopy of the Russian Academy of Sciences, and the "Syntol" company, held a summer school on "Cardio Genetics: From Sequencing to Developing a Cardio Panel." The school was conducted as part of the Federal Scientific and Technical Program for the Development of Genetic Technologies for 2019–2027 (project 15.IP.21.0004).

© HSE

Yandex Cloud acted as the technological partner for the school, providing company facilities and services to train participants. Participation was free of charge based on the results of a competitive selection. The organizers received more than 100 applications, from which the school’s organizing committee determined the top 25.

The school's program was aimed at mastering data analysis tools, exemplified by cardio genetics. It invited biologists, who would learn how Data Science tools could be applied to familiar biological entities, bioinformaticians, who wanted to delve into the specifics of cardio genetics, as well as data analysts and programmers.

Maria Poptsova, Head of the International Laboratory of Bioinformatics, Academic Supervisor of the Master's Program "Data Analysis in Biology and Medicine", Associate Professor at the Department of Big Data and Information Retrieval, Faculty of Computer Science

"We are organizing a summer school on cardio genetics for the second year. It turned out to be interdisciplinary not only by the design of the organizers but also by the composition of the participants: representatives of different universities and faculties were selected—computer science, biological, medical, as well as employees of actual genetic companies. Participants had a unique opportunity for a horizontal exchange of experience.”

The school consisted of several stages. The first stage was dedicated to processing sequencing data in the Linux system. This year, Yandex Cloud created virtual machines with large volumes of both RAM and disk space for each participant. Participants had the opportunity to process full exomes in real-time.

The second stage was a tour of the "Biotechnological Campus." Here, attendees became acquainted with the "wet" laboratory (a laboratory where liquids or other moist materials are used in experiments and research) and the "National Genetic Initiative '100,000+ I' project."

The third stage was getting to know experimental sequencing technologies under the guidance of Pavel Melentiev, a physicist scientist involved in developing Russian sequencers, as well as a trip to the Laboratory of Optical DNA Sequencing Methods at the Institute of Spectroscopy of the Russian Academy of Sciences in Troitsk.

And the fourth stage was immersion in practical medical activity, which included a lecture by a practicing cardio geneticist doctor. He explained how the knowledge of genetic mutations aids specialists in treating and diagnosing specific diseases and how the analysis results are interpreted.

During the training, participants worked on projects aimed at identifying pathogenic variants with the help of a cardio genetic mini-panel. The defense of the final works was held on the last day of the school. Participants who successfully mastered the program were awarded certificates of advanced training.

Kirill Kuzmichev, a school participant, Assistant at the Department of Endocrinology and Internal Diseases of the Volga Research Medical University, cardiologist at City Clinical Hospital №13 (Nizhny Novgorod)

"Under the supervision of the department head Ilya Grigoryevich Pochinka, my scientific advisor and teacher, we conduct several works focused on finding potential clinical and genetic prerequisites for adverse events in patients with myocardial infarction.

Undoubtedly, genetics holds the future of medicine development in terms of personalized and precision approaches to the patient. However, for us as clinicians, the field of scientific genetics remains terra incognita, where we are only beginning to take our first steps. To properly organize research and correctly interpret the results, it is necessary to have a live communication with geneticists specialists.

Such an opportunity to immerse myself in the environment of real geneticists presented itself to me at HSE's school. The classes provide an overview of modern genome sequencing methods; it was exceedingly interesting to learn about the method of single-molecule sequencing from Associate Professor Pavel Melentyev of the Institute of Space Research (ISR), straight from the horse's mouth, so to speak. Simply an unforgettable inspiring example. However, in the context of current scientific work, the most valuable was to form an understanding of the methods for processing results and searching for genetic associations in a vast array of data. These are the real Big Data. Ultimately, I became firmly convinced of the necessity for further mastering at least the basic skills in programming and bioinformatics—without them, it is simply impossible to become a true specialist in this field."