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IMPROVE CASUAL GENE PRIORITIZATION BY PATIENT,S PHENOTYPE. IDENTIFICATION AND PARSING OF RELEVANT MENDELIAN DISEASE ARTICLES
P. 24–24.
Konstantinovskiy N., Smirnov D., Holger P.
Language:
English
In book
St. Petersburg: Федеральное государственное автономное образовательное учреждение высшего образования "Санкт-Петербургский политехнический университет Петра Великого", 2021.
Diachkova E., Nikulin D., Кубкин Я. В. et al., American Journal of Respiratory and Critical Care Medicine 2026 Vol. 212
Accurate classification of a patient with pulmonary hypertension (PH) into one of five groups is fundamental for appropriate disease management strategies. The time from disease onset to correct diagnosis is unacceptably long in many cases. Chronic thromboembolic pulmonary hypertension (CTEPH) develops as a consequence of venous thromboemboli, resulting in a more pronounced hereditary predisposition to ...
Added: September 23, 2026
Kashevarova O., Portnova G., Khayrullina G. et al., Frontiers in Psychiatry 2026 Vol. 17 P. 1776019
Added: September 5, 2026
Kyrchanova O., Ksenia Kudryashova, Dubrovskaya V. et al., Open Biology 2025 Vol. 15 No. 11 Article 250192
The specification of abdominal segments A5 to A9 depends on the expression of Abdominal-B (Abd-B), which is regulated by four infraabdominal domains: iab-5 through iab-8,9. Each iab domain contains an initiation element that determines its active state, along with enhancers responsible for tissue-specific activation of Abd-B. These iab domains function autonomously due to their flanking boundaries, Fab-6, Fab-7 and Fab-8, which both block crosstalk between adjacent iab domains (insulator function) and facilitate long-range ...
Added: June 20, 2026
Beknazarov N., , in: Parallel Computational Technologies, 19th International Conference, PCT 2025, Moscow, Russia, April 8–10, 2025, Revised Selected Papers. (CCIS, volume 2891)Vol. 2891.: Springer, 2026. P. 3–16.
This paper addresses the challenge of efficiently training Large Language Models (LLMs) on large-scale, sparse omics datasets in high-performance computing (HPC) environments. Using over 1000 BED tracks as a representative data source, we propose a method combining interval-based chunked storage, sparse matrix transformation, and parallel data loading, integrated within a PyTorch Lightning training framework. Our ...
Added: May 19, 2026
Arteaga Moreano B. D., Chervov N., Poptsova M., Scientific Reports 2026 Vol. 16 No. 1 Article 4772
Accurate prediction of protein-protein interactions (PPIs) is fundamental to understanding biological processes and disease mechanisms. While deep learning offers a powerful alternative to costly experimental methods, existing approaches often overlook critical protein-surface information and rely on simplistic feature fusion techniques, thereby limiting performance. To address this, we introduce GSMFormer-PPI, a novel multimodal framework that integrates ...
Added: February 4, 2026
David Arteaga, Poptsova M., Computational and Structural Biotechnology Journal 2026 Vol. 31 P. 82–93
Accurate predictions and large-scale identification of protein-protein interactions (PPIs) are crucial for understanding their inherent biological mechanisms and protein functions in virtually all biological processes. Nowadays, graph-based deep learning models have made significant contributions in modeling proteins with physicochemical and geometric features. However, most of these models rely on conventional graph construction methods, such as ...
Added: December 22, 2025
Budkina A., Korneenko E., Kotov I. et al., Viruses 2021 No. 10 P. 2006
According to various estimates, only a small percentage of existing viruses have been discovered, naturally much less being represented in the genomic databases. High-throughput sequencing technologies develop rapidly, empowering large-scale screening of various biological samples for the presence of pathogen-associated nucleotide sequences, but many organisms are yet to be attributed specific loci for identification. This ...
Added: September 19, 2025
KUDRYAVTSEVA A., Cancers 2023
Liver metastasis is a significant factor contributing to mortality associated with colorectal cancer. Establishing the biological mechanisms of metastasis is crucial for refining diagnostics and identifying therapeutic windows for interventions. Currently, little is known of the processes that govern the development of liver metastases, the role of the tumor microenvironment, the role of epigenetics, and ...
Added: July 1, 2025
Аксенова А. Ю., Жук А. С., Степченкова Е. И. et al., Экологическая генетика 2025 Т. 23 № 2 С. 1–14
Биоинформатика — это быстро развивающаяся дисциплина на стыке биологии, информатики и математики. Научно-технический прогресс в области биологических и биомедицинских наук за последние годы привел к стремительному росту объемов данных. Для анализа и интерпретации больших данных нужны мощные вычислительные инструменты и специалисты с глубокими знаниями в различных областях, включая молекулярную биологию, генетику, программирование и математику. В ...
Added: May 20, 2025
The COVID-19 Host Genetics Initiative .., Rakitko A., Nature 2023 Vol. 621 No. 7977 P. Е7–Е26
Investigating the role of host genetic factors in COVID-19 severity and susceptibility can inform our understanding of the underlying biological mechanisms that influence adverse outcomes and drug development 1, 2. Here we present a second updated genome-wide association study (GWAS) on COVID-19 severity and infection susceptibility to SARS-CoV-2 from the COVID-19 Host Genetic Initiative (data ...
Added: March 4, 2025
Stefan Nikolić, Ignatov D. I., Khvorykh G. et al., PeerJ Computer Science 2024 Vol. 10 Article e2454
Despite the identification of several dozen genetic loci associated with ischemic stroke (IS), the genetic bases of this disease remain largely unexplored. In this research we present the results of genome-wide association studies (GWAS) based on classical statistical testing and machine learning algorithms (logistic regression, gradient boosting on decision trees, and tabular deep learning model ...
Added: December 11, 2024
Dolgov A., Философия науки и техники 2024 № 2 С. 47–60
The article is devoted to the study of social media users’ views on genetics and genetic technologies. The study of this issue is important because the development of genetic technologies in Russia is considered one of the priority tasks, and the implementation of innovations largely depends on the attitude towards it in society. Fundamental scientific ...
Added: December 7, 2024
[б.и.], 2023.
The Workshop will be held in the Meshcheryakov Laboratory of Information Technologies (MLIT) of the Joint Institute for Nuclear Research (JINR) on July 6-8, 2022.
The workshop primarily focuses on the use of machine learning in particle astrophysics and high energy physics, but is not limited to this area. Topics of interest are various applications of ...
Added: March 12, 2024
Pavel Latyshev, Fedor Pavlov, Herbert A. et al., , in: Proceedings of 11th Moscow Conference on Computational Molecular Biology MCCMB'23.: IITP RAS, 2023.
Added: December 1, 2023
IITP RAS, 2023.
В сборнике представлены тезисы работ участников 11-ой Московской конференции по вычислительной молекулярной биологии MCCMB'23. Работы посвящены актуальным вопросам анализа аминокислотных и нуклеотидных последовательностей, структур биополимеров, молекулярной эволюции, методов высокопроизводительного секвенирования, системной биологии и биоалгоритмов. ...
Added: November 30, 2023
Cham: Springer, 2023.
Added: November 29, 2023