?
The complete sequence of a human Y chromosome
Nature. 2023. Vol. 621. No. 7978. P. 344–354.
Rhie A., Nurk S., Cechova M., Hoyt S., Taylor D., Altemose N., Hook P., Ryabov F.
Хромосома Y человека была печально известна своей сложной структурой повторов, включающей длинные палиндромы, тандемные повторы и сегментные дупликации. В результате более половины Y-хромосомы отсутствует в эталонной последовательности GRCh38, и она остается последней хромосомой человека, сборка которой еще не завершена4,5. Здесь консорциум Telomere-to-Telomere (T2T) представляет полную последовательность 62 460 029 пар оснований Y-хромосомы человека из генома HG002 (T2T-Y), которая исправляет многочисленные ошибки в GRCh38-Y и добавляет более 30 миллионов пар оснований к эталонной последовательности, показывая полные ампликонические структуры семейств генов TSPY, DAZ и RBMY; 41 дополнительный белок-кодирующий ген, в основном из семейства TSPY; и чередующуюся картину блоков спутников 1 и 3 человека в гетерохромной области Yq12. Мы объединили T2T-Y с предыдущей сборкой генома CHM13 и сопоставили имеющиеся популяционные вариации, клинические варианты и данные функциональной геномики, чтобы получить полную и всеобъемлющую эталонную последовательность для всех 24 хромосом человека.
Nersisyan A., Frontiers in Molecular Biosciences 2026 Vol. 13 Article 1995001
Antiviral activity is commonly summarized using endpoint measures such as EC50 or EC90, yet these quantities emerge from a dynamic biological system and depend on viral replication kinetics, host-cell properties, experimental design, and the assay used to quantify infection. Infectious-virus titers, viral RNA, infected-cell fractions, viability measurements, and immune readouts capture different components of the ...
Added: October 15, 2026
Тукачев Н. В., González-Jiménez M., Ramakrishnan G. et al., Physical Chemistry Chemical Physics 2021 Vol. 23 No. 23 P. 13250–13260
Low-frequency vibrations play an essential role in biomolecular processes involving DNA such as gene expression, charge transfer, drug intercalation, and DNA–protein recognition. However, understanding the vibrational basis of these mechanisms relies on theoretical models due to the lack of experimental evidence. Here we present the low-frequency vibrational spectra of G-quadruplexes (structures formed by four strands ...
Added: October 14, 2026
Батова О. Н., Савинецкая Л. Е., Проявка С. В. et al., Nature Conservation Research. Заповедная наука 2026 Т. 11 № 4 С. 25–39
Spermophilus suslicus is a threatened species listed in Red Data Books at all levels (from regional Red Data
Books to the IUCN Red List of Threatened Species), and it currently requires special conservation activity.
Over the past 30–50 years, its range has changed from continuous to mosaic, and its population has declined
everywhere. In 2015, in Russia experimental ...
Added: October 13, 2026
Temereva E., Zoologischer Anzeiger 2026 Vol. 325 P. 182–195
Brachiopoda is a group of animals, that is still insufficiently studied at the ultrastructural level, despite the significance of ultrastructure of tissues and organs for analysing the functional morphology, reconstructing the organisation and biology of numerous extinct brachiopods, and establishing relationships among major taxa. In the present study, we provide a revised reconstruction of the ...
Added: October 11, 2026
Ekaterina D. Riumina, Klink G. V., Alekseeva E. et al., PNAS, США 2026 Vol. 123 No. 35 P. 1–20
The role of escape from the cytotoxic T cell (CTL) response in SARS-CoV-2 evolution remains controversial. Here, we study the origin and spread of SARS-CoV-2 variants whose mutations reduce presentation by the HLA class I alleles common in human populations. We find that 35% of mutations that are characteristic of the variants of concern, and ...
Added: October 2, 2026
Aly Ismailov, Poptsova M., Plos One 2026 Vol. 21 No. 9 Article e0355902
Added: October 2, 2026
Knyazev E., Чеботарева О. Е., М.: Издательский дом НИУ ВШЭ, 2026.
This teaching and learning guide provides a concise overview of the theoretical and practical aspects of the basic skills required to work in a biological laboratory. It also includes protocols for practical classes conducted as part of the introductory professional training placement for first-year students in the Bachelor’s programme in Cell and Molecular Biotechnology at ...
Added: September 30, 2026
Ryskina H., Knyazev E., Вопросы биологической, медицинской и фармацевтической химии 2026 Т. 29 № 9 С. 84–91
Introduction. The active integration of rapidly developing omics and computer technologies in the 21st century has led to a breakthrough in understanding the principles of the functioning of living systems. One of the dynamically developing integrative areas in biology is biological modeling. The fundamental paradigm has been the methodology that allows for the prediction of ...
Added: September 29, 2026
Lin Z., Duan K., Wan R. et al., Advanced Science 2026 P. 1–13
Targeted protein degradation represents a promising therapeutic strategy, yet its broader application is often limited by the scarcity of usable E3 ligases. Glutathione peroxidase 4 (GPX4) is a key target for inducing ferroptosis, but achieving sustained and potent inhibition remains challenging with conventional enzymatic inhibitors. Herein, we report the first small‐molecule GPX4 degraders that incorporate ...
Added: September 26, 2026
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
Xu Y., Ryabov F., Alexandrov I. et al., USA 2026 Vol. 6 No. 8 Article 101324
Центромеры обеспечивают расхождение хромосом, однако организацию их хроматина в пределах повторяющейся альфа-сателлитной ДНК долгое время было трудно изучать. Для решения этой задачи мы создали гаплотип-разрешённые аннотации сателлитной ДНК для полной диплоидной сборки генома человека T2T-HG002. Затем с помощью метода направленного метилирования с секвенированием длинных прочтений (DiMeLo-seq) мы картировали центромерный белок A (CENP-A), модификацию H3K9me3 и ...
Added: September 23, 2026
Hebbar P., Ryabov F., Alexandrov I. et al., Cell 2026 Vol. 189 P. 4891–4908.e12
The common marmoset is a New World monkey widely used to study primate evolution and human disease. We present a telomere-to-telomere (T2T) reference assembly for the species, plus three near-T2T haplotypes. These resolve previously inaccessible regions, including the centromeres, sex chromosomes, subterminal satellites, acrocentric chromosomes, and the major histocompatibility complex (MHC). We find marmoset centromeres ...
Added: September 23, 2026
Shaitan A., Ke Y., Shutao C. et al., 2026 No. 24 Article 181
Background Therapeutic peptides exert pivotal effects in diverse biological processes, and have attracted significant interest in the field of biomedicine in recent years. However, most existing methods often fail to adequately capture the intricate interactions among amino acid residues and the contextual dependencies within peptide sequences, which hampers the extraction of deep semantic representations and ...
Added: September 18, 2026
Anton Rogachev, Sysoeva O., Frontiers in Systems Neuroscience 2025 Vol. 19 Article 1658243
Added: September 17, 2026
Lucas J., Hebbar P., Ryabov F. et al., / Series 10.64898/2026.07.21.739710 "10.64898/2026.07.21.739710". 2026.
A pangenome reference overcomes the inherent limitation of any individual reference genome by integrating the variation present in a population. We present the Human Pangenome Reference Consortium’s (HPRC) Release 2 (HPRC2), an openly available, second phase pangenome that is an approximately fivefold expansion in genome number over HPRC Release 1 (HPRC1) and measurable improvement in ...
Added: August 10, 2026
Fishman V., Kuratov Y., Shmelev A. et al., Nucleic Acids Research 2025 Vol. 53 No. 2 Article gkae1310
Recent advancements in genomics, propelled by artificial intelligence, have unlocked unprecedented capabilities in interpreting genomic sequences, mitigating the need for exhaustive experimental analysis of complex, intertwined molecular processes inherent in DNA function. A significant challenge, however, resides in accurately decoding genomic sequences, which inherently involves comprehending rich contextual information dispersed across thousands of nucleotides. To ...
Added: August 1, 2025
Hartley G., Okhovat M., Hoyt S. et al., Cell Genomics 2025 Vol. 5 No. 4 Article 100808
У человекообразных обезьян сохраняется стабильный кариотип с небольшим числом крупномасштабных перестроек; у гиббонов, напротив, наблюдается высокий уровень хромосомных перестроек, сопровождающийся быстрой сменой центромер. Здесь мы охарактеризовали полностью собранные центромеры восточного гиббона Hoolock leuconedys (HLE), обнаружив разнообразную группу транспозируемых элементов (TEs), которые отличаются от канонических альфа-сателлитов, встречающихся на центромерах других приматов. Мы обнаружили, что центромеры HLE ...
Added: May 16, 2025
Altemose N., Logsdon G., Bzikadze A. et al., Science 2022 Vol. 376 No. 6588 Article eabl4178
Существующие сборки генома человека почти полностью исключали повторяющиеся последовательности внутри и вблизи центромер, что ограничивало наше понимание их организации, эволюции и функций, которые включают в себя содействие правильной сегрегации хромосом. Теперь полная сборка генома человека от теломеры до теломеры (T2T-CHM13) позволила нам всесторонне охарактеризовать перицентромерные и центромерные повторы, составляющие 6,2% генома (189,9 мегабаз). Детальные карты ...
Added: May 16, 2025
Уральский Л., Александров И. А., Ryabov F. et al., Цитология 2023 Т. 65 № 3 С. 217–231
Recent long-read sequencing technologies have made it possible for the first time to read the complete, gap-free sequence of the human genome. The result was the first T2T (telomere-to-telomere) genome assembly, published by the international consortium of scientists of the same name in 2022. The most significant contribution of the new assembly was the centromeric ...
Added: May 16, 2025
Logsdon G., Rozanski A., Ryabov F. et al., Nature 2024 Vol. 629 No. 8010 P. 136–145
Human centromeres have been traditionally very difficult to sequence and assemble owing to their repetitive nature and large size1. As a result, patterns of human centromeric variation and models for their evolution and function remain incomplete, despite centromeres being among the most rapidly mutating regions2,3. Here, using long-read sequencing, we completely sequenced and assembled all centromeres ...
Added: May 16, 2025
Zhang S., Xu N., Fu L. et al., Nature 2025 Vol. 640 No. 8059 P. 714–721
The crab-eating macaques (Macaca fascicularis) and rhesus macaques (Macaca mulatta) are pivotal in biomedical and evolutionary research1,2,3. However, their genomic complexity and interspecies genetic differences remain unclear4. Here, we present a complete genome assembly of a crab-eating macaque, revealing 46% fewer segmental duplications and 3.83 times longer centromeres than those of humans5,6. We also characterize 93 ...
Added: May 16, 2025
Makova K., Ryabov F., Pickett B. et al., Nature 2024 Vol. 630 No. 8016 P. 401–411
Apes possess two sex chromosomes—the male-specific Y chromosome and the X chromosome, which is present in both males and females. The Y chromosome is crucial for male reproduction, with deletions being linked to infertility1. The X chromosome is vital for reproduction and cognition2. Variation in mating patterns and brain function among apes suggests corresponding differences ...
Added: April 7, 2025
K. Arzymatov, E. Khomutov, V. Shchur, Lobachevskii Journal of Mathematics 2022 Vol. 43 No. 8 P. 2092–2098
Genomic data is a rich source of information about population history. In particular, for actively recombining species the time to the last common ancestor (LCA) between two chromosomes might be different in different chromosome loci. Estimating local LCA time is important for many problems: it can be used to infer genes under selection, or to ...
Added: September 19, 2022
Cheloshkina K., Bzhikhatlov I., Poptsova M., Journal of Computational Biology 2021 Vol. 28 No. 7 P. 716–731
Cancer genomes are susceptible to multiple rearrangements by deleting, inserting, and translocating genomic regions. Recently, the problem of finding determinants of breakpoint formations was approached with machine learning methods; however, unlike cancer point mutations, breakpoint prediction appeared to be a more difficult task, and various machine learning models did not achieve high prediction power often ...
Added: September 10, 2021