Artificial Intelligence Improves Risk Prediction of Complex Diseases
Neural network models developed at the HSE AI Research Centre have significantly improved the prediction of risks for obesity, type 1 diabetes, psoriasis, and other complex diseases. A joint study with Genotek Ltd showed that deep learning algorithms outperform traditional methods, particularly in cases involving complex gene interactions (epistasis). The findings have been published in Frontiers in Medicine.
Traditional methods of assessing genetic risk, such as linear regression, often fail to account for intricate gene interactions that influence disease development. These epistatic effects are difficult to detect using classical models, which reduces the accuracy of predictions.
To overcome these limitations, the researchers simulated data incorporating various types of epistasis—additive, multiplicative, and threshold—and trained neural network models on genetic data from over 58,000 individuals of European descent. The study modelled a range of gene interaction scenarios and assessed their impact on disease risk.
The use of deep learning methods, particularly recurrent neural networks (RNN), significantly improved prediction accuracy. The most notable improvement was observed in predicting the risk of type 1 diabetes: the area under the ROC curve (AUC) for the RNN models reached 0.823.
Maria Poptsova
‘Our research demonstrates new possibilities for personalised medicine and prevention. If we can more accurately identify individual risks, it will help doctors to develop more effective treatment and prevention strategies,’ noted Maria Poptsova, Head of the International Laboratory of Bioinformatics.
The study thus confirms the high effectiveness of non-linear machine learning models in predicting genetic risk, paving the way for more accurate personalisation of medical recommendations and therapies.
Alexander Rakitko
‘The genetic passport is becoming an integral part of modern personalised medicine. It is not enough to simply decode a person's genome—we must interpret the results in the most informative way. That is why we are constantly working on training new models to assess the risks of multifactorial diseases. Our joint research shows that neural networks can be effective in this area,’ said Alexander Rakitko, Director of Science at Genotek.
Based on the study, the team at the HSE AI Research Centre developed specialised software—Deep Learning Models for Polygenic Risk Assessment. The programme predicts the likelihood of disease development by analysing individual genomic variations. This tool has already been licensed by Genotek for use in practical genetic research.
See also:
Scientists Discover Why Parents May Favour One Child Over Another
An international team that included Prof. Marina Butovskaya from HSE University studied how willing parents are to care for a child depending on the child’s resemblance to them. The researchers found that similarity to the mother or father affects the level of care provided by parents and grandparents differently. Moreover, this relationship varies across Russia, Brazil, and the United States, reflecting deep cultural differences in family structures in these countries. The study's findings have been published in Social Evolution & History.
When a Virus Steps on a Mine: Ancient Mechanism of Infected Cell Self-Destruction Discovered
When a virus enters a cell, it disrupts the cell’s normal functions. It was previously believed that the cell's protective response to the virus triggered cellular self-destruction. However, a study involving bioinformatics researchers at HSE University has revealed a different mechanism: the cell does not react to the virus itself but to its own transcripts, which become abnormally long. The study has been published in Nature.
Researchers Identify Link between Bilingualism and Cognitive Efficiency
An international team of researchers, including scholars from HSE University, has discovered that knowledge of a foreign language can improve memory performance and increase automaticity when solving complex tasks. The higher a person’s language proficiency, the stronger the effect. The results have been published in the journal Brain and Cognition.
Artificial Intelligence Transforms Employment in Russian Companies
Russian enterprises rank among the world’s top ten leaders in AI adoption. In 2023, nearly one-third of domestic companies reported using artificial intelligence. According to a new study by Larisa Smirnykh, Professor at the HSE Faculty of Economic Sciences, the impact of digitalisation on employment is uneven: while the introduction of AI in small and large enterprises led to a reduction in the number of employees, in medium-sized companies, on the contrary, it contributed to job growth. The article has been published in Voprosy Ekonomiki.
Lost Signal: How Solar Activity Silenced Earth's Radiation
Researchers from HSE University and the Space Research Institute of the Russian Academy of Sciences analysed seven years of data from the ERG (Arase) satellite and, for the first time, provided a detailed description of a new type of radio emission from near-Earth space—the hectometric continuum, first discovered in 2017. The researchers found that this radiation appears a few hours after sunset and disappears one to three hours after sunrise. It was most frequently observed during the summer months and less often in spring and autumn. However, by mid-2022, when the Sun entered a phase of increased activity, the radiation had completely vanished—though the scientists believe the signal may reappear in the future. The study has been published in the Journal of Geophysical Research: Space Physics.
Banking Crises Drive Biodiversity Loss
Economists from HSE University, MGIMO University, and Bocconi University have found that financial crises have a significant negative impact on biodiversity and the environment. This relationship appears to be bi-directional: as global biodiversity declines, the likelihood of new crises increases. The study examines the status of populations encompassing thousands of species worldwide over the past 50 years. The article has been published in Economics Letters, an international journal.
Scientists Discover That the Brain Responds to Others’ Actions as if They Were Its Own
When we watch someone move their finger, our brain doesn’t remain passive. Research conducted by scientists from HSE University and Lausanne University Hospital shows that observing movement activates the motor cortex as if we were performing the action ourselves—while simultaneously ‘silencing’ unnecessary muscles. The findings were published in Scientific Reports.
Russian Scientists Investigate Age-Related Differences in Brain Damage Volume Following Childhood Stroke
A team of Russian scientists and clinicians, including Sofya Kulikova from HSE University in Perm, compared the extent and characteristics of brain damage in children who experienced a stroke either within the first four weeks of life or before the age of two. The researchers found that the younger the child, the more extensive the brain damage—particularly in the frontal and parietal lobes, which are responsible for movement, language, and thinking. The study, published in Neuroscience and Behavioral Physiology, provides insights into how age can influence the nature and extent of brain lesions and lays the groundwork for developing personalised rehabilitation programmes for children who experience a stroke early in life.
Scientists Test Asymmetry Between Matter and Antimatter
An international team, including scientists from HSE University, has collected and analysed data from dozens of experiments on charm mixing—the process in which an unstable charm meson oscillates between its particle and antiparticle states. These oscillations were observed only four times per thousand decays, fully consistent with the predictions of the Standard Model. This indicates that no signs of new physics have yet been detected in these processes, and if unknown particles do exist, they are likely too heavy to be observed with current equipment. The paper has been published in Physical Review D.
HSE Scientists Reveal What Drives Public Trust in Science
Researchers at HSE ISSEK have analysed the level of trust in scientific knowledge in Russian society and the factors shaping attitudes and perceptions. It was found that trust in science depends more on everyday experience, social expectations, and the perceived promises of science than on objective knowledge. The article has been published in Universe of Russia.