From Sequencing to Constructing a Cardio Panel: Summer School in Cardiogenetics (original) (raw)

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From August 19 to 29, the Continuing Professional Development Centre of the HSE Faculty of Computer Science hosted the summer school 'Cardiogenetics: From Sequencing to Constructing a Cardio Panel,' organised in collaboration with the Russian Academy of Sciences' Institute of Analytical Instrumentation (IAI) and Institute of Spectroscopy (ISAN), and the Syntol company. The summer school was conducted within the framework of the Federal Research Programme for Genetic Technologies Development for 2019–2027 (Project 15.IP.21.0004).

Yandex Cloud served as the technology partner for the summer school, making the company's facilities and services available to learners during training. Admission was granted free of charge, contingent upon the outcomes of a competitive selection process. The organisers received more than 100 applications, of which 25 were selected by the school's organising committee.

The programme was designed to help learners master data analysis tools with a focus on cardiogenetics. The programme was open to a diverse group of students and professionals, including biologists interested in applying Data Science tools to biological entities, bioinformaticians aiming to explore the specifics of cardiogenetics, as well as data analysts and programmers.

Maria Poptsova, Head of the International Laboratory of Bioinformatics, Academic Supervisor of the Master's Programme 'Data Analysis in Biology and Medicine,' and Associate Professor at the FCS Big Data and Information Retrieval School

'This is the second consecutive year we are hosting the summer school on cardiogenetics. It turns out to be interdisciplinary not only by design but also in the composition of its participants, attracting representatives from various universities and faculties—including computer science, biology, and medicine—as well as professionals from actual genetic companies. The participants had a unique opportunity for sharing experiences and expertise among themselves.'

The school programme consisted of several stages. The first stage of the programme focused on processing sequencing data in a Linux environment. This year, Yandex Cloud provided each participant with virtual machines equipped with ample RAM and disk space. The participants were able to process complete exomes in real time.

The second stage included a tour of the Biotechnology Campus, where students were introduced to the so-called 'wet' laboratory— a facility where liquids and other wet materials are used in experiments—and to the '100,000+ Me' Russian Genome Project.

The third stage included an introduction to experimental sequencing technologies led by Pavel Melentyev, a physicist involved in the development of Russian DNA sequencers. This stage also featured a trip to Troitsk to visit the ISAN's Laboratory of Optical Methods for DNA Molecule Sequencing.

The fourth stage offered an immersion in medical practice, featuring a lecture by a practicing cardiogeneticist. He explained how knowledge of genetic mutations aids specialists in the treatment and diagnosis of specific diseases, and how the results of analyses are interpreted.

During the training, the participants worked on projects focused on identifying pathogenic variants using a cardiogenetic mini-panel. The concluding day of the summer school was dedicated to the defence of final projects. Learners who successfully completed the programme received advanced training certificates.

Kirill Kuzmichev, participant of the summer school, Assistant at the Department of Endocrinology and Internal Diseases of the Volga Region Research Medical University and cardiologist at State Clinical Hospital No. 13 in Nizhny Novgorod

'Under the guidance of the department head Ilya Pochinka, who is also my academic supervisor and teacher, we have been conducting several projects aimed at identifying potential clinical and genetic prerequisites for adverse events in patients with myocardial infarction.

Undoubtedly, genetics represents the future of medicine, particularly in terms of personalised and precision approaches to patient care. However, for us as clinicians, the field of scientific genetics remains terra incognita, where we are only just beginning to take our first steps. In order to effectively organise research and accurately interpret results, live communication with geneticists is essential.

At the summer school organised by HSE University, I had this opportunity to engage directly with practicing geneticists. The classes provided insights into modern genome sequencing methods, and it was particularly fascinating to learn about monomolecular sequencing from ISAN Associate Professor Pavel Melentyev firsthand. It was an unforgettable and inspiring experience. In the context of my current scientific work, the most valuable takeaway was gaining an understanding of the methods for processing results and searching for genetic associations within vast data sets. This is true Big Data. Ultimately, I firmly believe that acquiring at least basic programming and bioinformatics skills is essential, as without them, it is impossible to become a true specialist in this field.'

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