The Future of Cardiogenetics Lies in Artificial Intelligence
Researchers from the AI and Digital Science Institute at the HSE Faculty of Computer Science have developed a program capable of analysing regions of the human genome that were previously inaccessible for accurate interpretation in genetic testing. The program adapts large generative AI (GenAI) models for cardiogenetics to predict how specific mutations affect the function of individual genes.
The human genome can be likened to an enormous library. Until recently, scientists could read only a small fraction of its 'books'—those that contain instructions for making proteins (about 2% of the total DNA). This is where researchers typically looked for mutations responsible for hereditary heart diseases. For such variants, well-established international criteria exist to assess their risk and identify mutations that drive disease progression. But what about the remaining 98%? For a long time, these regions were dismissed as 'empty pages' or 'genetic junk.' However, it has become clear that they are far from useless: they function as switches and volume controls, regulating how actively genes are expressed. Disruptions in these regions can significantly affect the functioning of the heart, blood vessels, and blood.
The challenge was that scientists were previously unable to determine which of these 'invisible' mutations were truly harmful and which were benign. As a result, many cases of heart disease remained unexplained due to the inability to analyse non-coding variants, ie those that do not contain direct instructions for protein synthesis. Researchers at the HSE FCS AI and Digital Science Institute have proposed a software solution that, for the first time, enables large-scale, accurate analysis of these 'silent' regions in the context of heart health. The software leverages state-of-the-art generative models—the technology underlying popular neural networks—to predict the effects of mutations in regulatory DNA regions and assess their impact on cardiovascular function.
Maria Poptsova, Director of the Centre for Biomedical Research and Technologies at the HSE FCS AI and Digital Science Institute
'The program is built on two powerful AI models acting as experts who have read millions of genetic instructions and are therefore able to compare two DNA variants: a healthy, or reference, sequence and a sequence in which a mutation has occurred. The program then assesses whether the "volume" of the genes has changed as a result of the mutation, meaning whether they have become more active or, conversely, less active. We focused on heart and blood vessel tissues, but the method can be applied to any tissue.'
To improve accuracy, the program uses a form of collective intelligence: several models analyse each mutation from different perspectives, and their findings are then integrated using artificial intelligence methods. As a result, the program produces a simple, interpretable score between 0 and 1. The closer the score is to 1, the higher the likelihood that the detected mutation is harmful and may contribute to the development of heart disease.
To ensure the program is reliable, the scientists conducted a rigorous validation study. They used data from the UK Biobank project, a large-scale database of genetic information. For testing, more than 11,000 mutations were selected from the regulatory regions of DNA that had previously been difficult to analyse. The dataset included both variants already known to be associated with disease and clearly benign variants. To ensure a fair experiment, each potentially harmful mutation was compared with nine benign ones selected based on the maximum number of matching characteristics: genomic location, site type, proximity to genes, and other parameters. The program successfully completed the task, reliably distinguishing pathogenic mutations from harmless ones and demonstrating its robustness and readiness for practical application.
The program was developed for practical use by a wide range of specialists, including staff in medical laboratories and cardiology centres, who will be able to interpret genome-wide sequencing results more accurately and identify genetic causes of disease in patients. It is already being introduced into the workflows of genetic laboratories. As the developers note, no programming skills are required to use the system: it is designed for everyday use by geneticists, bioinformaticians, and medical researchers.
In basic research, the program can help understand the molecular mechanisms underlying the development of heart disease and explore how regulatory DNA regions contribute to pathology. Using this tool, scientists at the HSE FCS Centre for Biomedical Research and Technologies have already made an important discovery: certain variants of the BMPR2 gene that affect its activity can influence how a patient responds to treatment. The researchers are now continuing their work, focusing on non-coding DNA regions that affect the function of genes associated with the risk of sudden cardiac death.
The GenAI model 'Predicting the Effect of Non-Coding Variants Based on the Adaptation of GenAI Models to the Cardiogenetics Domain' was developed as part of a programme implemented by the HSE AI Research Centre under a grant from the Russian Ministry of Economic Development.
See also:
HSE Economists Use Search Queries to Forecast Birth Rates
Researchers from the HSE Faculty of Economic Sciences have shown that the accuracy of birth rate forecasts for Russia can be improved by almost 50% by incorporating the dynamics of online search queries related to pregnancy and childbirth into forecasting models. In the best-performing models, the forecasting error fell from 4.6% to 3.2%. The findings have been published in Populations and Economics.
HSE Researchers Discover Who Eats Out in Russia—And Why
Around one-third of Russians (31.3%) rarely eat out or buy ready-made meals. The core group of active consumers—those who eat out or purchase prepared food almost every day or several times a week—accounts for only about 9% of the population. These are the findings of a study conducted by the HSE Institute for Social Policy. According to the researchers eating out is no longer a marker of high social status in Russia.
Scientists Model How Interactions Between Societies Can Trigger Chaotic Behaviour
Scientists at HSE MIEM have proposed a mathematical model explaining how interactions between societies can influence their stability. Based on the classical theory of evolutionary games, the study reveals an unexpected effect: even a weak informational influence of one society on another can cause one society to remain stable while the other exhibits chaotic behaviour among its individual members. The study has been published in the International Journal of Bifurcation and Chaos.
Ancient Craniiform Brachiopod: A Newly Discovered Species with a Unique Shell Shape and Lifestyle
Scientists from HSE University, MSU, and Tallinn University of Technology have studied a fossil species of ancient brachiopods that lived in a warm sea in what is now northern Estonia more than 445 million years ago. These ancient brachiopods developed a cup-shaped shell with a protective 'cap' that shielded them from overgrowth by other marine organisms. The study has been published in Palaeogeography, Palaeoclimatology, Palaeoecology.
Scientists Develop Bacterium-Sized Microlaser
An international team of researchers, including scientists from HSE University–St Petersburg, has developed microlasers that emit deep-ultraviolet light at a wavelength of 255 nanometres. The devices operate at room temperature, and the smallest of them measures just two micrometres in diameter—roughly the size of a bacterium. These microlasers could be used in sensors, spectroscopic systems, photonic chips, and communication devices. The paper has been published in Optics & Laser Technology.
HSE Develops App for Assessing Phonological Processing in Children
Researchers at the HSE Centre for Language and Brain have developed a new digital tool for assessing children's phonological processing skills—the ZARYA (Sound Analysis of the Russian Language) test battery. It is the first standardised application in Russia designed to provide a fast and reliable assessment of children's ability to distinguish speech sounds, retain them in working memory, and perform phonemic analysis. The app runs on Android tablets and smartphones and is available for download from RuStore. Details of the test validation have been published in the Journal of Speech, Language, and Hearing Research.
Researchers Discover How Spelling Errors Slow Down Reading in Russian
Psycholinguists from the Centre for Language and Brain at HSE University–St Petersburg have shown that words that are frequently misspelled are processed more slowly by readers, even when presented with the correct spelling. The researchers confirmed this effect for the first time using Russian-language materials and found that response speed is most strongly linked to how confidently individuals can distinguish the correct spelling of a word from an incorrect one. The study has been published in The Mental Lexicon.
Scientists Discover Why Europium 'Misbehaves'
Europium is a rare-earth metal responsible for the pure red glow in displays and other luminescent materials. For a long time, however, it refused to emit light when surrounded by certain organic molecules known as acylpyrazolone ligands. Chemists have now uncovered the reason: in europium complexes with these ligands, a 'black window' appears—a charge-transfer state in which the energy absorbed by the ligand is dissipated as heat rather than emitted as light. Understanding this mechanism opens the way to designing more efficient red-emitting materials for displays, fluorescent thermometers, and chemical sensors. The results have been published in Dalton Transactions.
HSE Economists Reveal How the Wage Gap Emerges Among Vocational School Graduates
HSE researchers examined the careers of 600,000 graduates of Russian secondary vocational education programmes and found that at the start of their careers, the gender wage gap reaches 23%, doubling after three years. This disparity is largely due to male and female students choosing different occupations when enrolling in vocational schools. These were the findings made by Sergey Roshchin, Natalya Yemelina, and Ksenia Rozhkova from of the HSE Faculty of Economic Sciences. The article has been published in Educational Studies.
HSE Researchers Make Aldehydes Perform Dual Function
Chemists from HSE University have discovered a way to carry out a reductive addition reaction without using an external reducing agent. Instead, the required 'resource' is supplied by the aldehyde itself, one of the reaction participants. This approach helps prevent unwanted side reactions, reduces toxicity, and simplifies the production and synthesis of organic molecules, including those used in the manufacture of medicines. The study has been published in Journal of Catalysis.