Epigenetic patterns in a complete human genome

Cited by (310)

Items 101–200 of 310

  1. Global effects of identity and aging on the human sperm methylome
    Guilherme De Sena Brandine, Kenneth Ivan Aston, Timothy G. Jenkins, Andrew D. Smith · 2023 · Clinical Epigenetics
  2. Defining a core configuration for human centromeres during mitosis
    Ayantika Sen Gupta, Chris W. Seidel, Dai Tsuchiya, Sean McKinney, Zulin Yu, Sarah E. Smith, Jay R. Unruh, Jennifer L. Gerton · 2023 · Nature Communications
  3. Unraveling the hidden complexity of cancer through long-read sequencing
    Qiuhui Li, Ayşe Gökçe Keşküş, Justin Wagner, Michal Izydorczyk, Winston Timp, Fritz Joachim Sedlazeck, Alison P. Klein, Justin M. Zook, Mikhail Kolmogorov, Michael C. Schatz · 2025 · Genome Research
  4. Nde1 is required for heterochromatin compaction and stability in neocortical neurons
    Alison A. Chomiak, Yan Guo, Caroline A. Kopsidas, Dennis P. McDaniel, Clara Christine Lowe, Hongna Pan, Xiaoming Zhou, Qiong Zhou, Martin L. Doughty, Yuanyi Feng · 2022 · iScience
  5. Epigenetic inheritance and boundary maintenance at human centromeres
    Pragya Sidhwani, Aaron F. Straight · 2023 · Current Opinion in Structural Biology
  6. Deciphering the role of structural variation in human evolution: a functional perspective
    Charikleia Karageorgiou, Ömer Gökçümen, Megan Y. Dennis · 2024 · Current Opinion in Genetics & Development
  7. Sperm DNA methylome abnormalities occur both pre- and post-treatment in men with Hodgkin disease and testicular cancer
    Donovan Chan, Kathleen Klein, Antoni Riera‐Escamilla, Csilla Gabriella Krausz, Cristián O’Flaherty, Peter T.K. Chan, Bernard Robaire, Jacquetta M. Trasler · 2023 · Clinical Epigenetics
  8. Enrichment of centromeric DNA from human cells
    Riccardo Gamba, Giulia Mazzucco, Therese Wilhelm, Léonid Velikovsky, Catalina Salinas‐Luypaert, Florian Chardon, Julien Picotto, Mylène Bohec, Sylvain Baulande, Ylli Doksani et al. · 2022 · PLoS Genetics
  9. Comprehensive variant discovery in the era of complete human reference genomes
    Monika Čechová, Karen H. Miga · 2023 · Nature Methods
  10. The impact of long-read sequencing on human population-scale genomics
    Tobias Rausch, Tobias Marschall, Jan O. Korbel · 2025 · Genome Research
  11. Vertebrate centromere architecture: from chromatin threads to functional structures
    Lorena Andrade Ruiz, Geert J.P.L. Kops, Carlos Sacristán · 2024 · Chromosoma
  12. CRISPR-Cas technology in forensic investigations: Principles, applications, and ethical considerations
    Ana Filipa Sobral, Ricardo Jorge Dinis‐Oliveira, Daniel José Barbosa · 2024 · Forensic Science International Genetics
  13. Train and Reprogram Your Brain: Effects of Physical Exercise at Different Stages of Life on Brain Functions Saved in Epigenetic Modifications
    Magdalena Kukla‐Bartoszek, Katarzyna Głombik · 2024 · International Journal of Molecular Sciences
  14. Digital Noah’s Ark: last chance to save the endangered species
    Fuwen Wei, Guangping Huang, Dengfeng Guan, Huizhong Fan, Wenliang Zhou, Depeng Wang, Yibo Hu · 2022 · Science China Life Sciences
  15. Visualization of the three-dimensional structure of the human centromere in mitotic chromosomes by superresolution microscopy
    Elena Di Tommaso, Valeria de Turris, Pavan Choppakatla, Hironori Funabiki, Simona Giunta · 2023 · Molecular Biology of the Cell
  16. Comparing genomic and epigenomic features across species using the WashU Comparative Epigenome Browser
    Xiaoyu Zhuo, Silas Hsu, Deepak Purushotham, Prashant Kumar Kuntala, Jessica K. Harrison, Alan Y. Du, Samuel Chen, Daofeng Li, Ting Wang · 2023 · Genome Research
  17. Centromeric transposable elements and epigenetic status drive karyotypic variation in the eastern hoolock gibbon
    Gabrielle A. Hartley, Mariam Okhovat, Savannah J. Hoyt, Emily P. Fuller, Nicole Pauloski, Nicolas M. Alexandre, Ivan A. Alexandrov, Ryan Drennan, Danilo Dubocanin, David M. Gilbert et al. · 2025 · Cell Genomics
  18. Genomic context-dependent histone H3K36 methylation by three Drosophila methyltransferases and implications for dedicated chromatin readers
    Muhunden Jayakrishnan, Magdalena Havlová, Václav Veverka, Catherine Regnard, Peter B. Becker · 2025 · Nucleic Acids Research
  19. Evolution of genome-wide methylation profiling technologies
    Carolina Montaño, Winston Timp · 2025 · Genome Research
  20. A genomic and epigenomic view of human centromeres
    Kate E. Jaggi, Savannah J. Hoyt, Rachel J. Waugh O'Neill, Beth A. Sullivan · 2026 · Nature Reviews Genetics
  21. CpG Island Definition and Methylation Mapping of the T2T-YAO Genome
    Ming Xiao, Rui Wei, Jun Yu, Chujie Gao, Fengyi Yang, Le Zhang · 2024 · Genomics Proteomics & Bioinformatics
  22. Identification and annotation of centromeric hypomethylated regions with CDR-Finder
    Francesco Kumara Mastrorosa, Keisuke K. Oshima, Allison N. Rozanski, William T. Harvey, Evan E. Eichler, Glennis A. Logsdon · 2024 · Bioinformatics
  23. Genome Assembly of a Living Fossil, the Atlantic Horseshoe Crab Limulus polyphemus , Reveals Lineage-Specific Whole-Genome Duplications, Transposable Element-Based Centromeres, and a ZW Sex Chromosome System
    Kate R. Castellano, Michelle L. Neitzey, Andrew Starovoitov, Gabriel A Barrett, Noah M. Reid, Vidya S Vuruputoor, Cynthia Webster, Jessica M. Storer, Nicole Pauloski, Natalie Ameral et al. · 2025 · Molecular Biology and Evolution
  24. Expanding studies of chromosome structure and function in the era of T2T genomics
    Karen H. Miga, Beth A. Sullivan · 2021 · Human Molecular Genetics
  25. Age-associated DNA methylation changes in Xenopus frogs
    Morselli, Marco, Bennett, Ronan, Shaidani, Nikko-Ideen, Horb, Marko, Peshkin, Leonid, Pellegrini, Matteo · 2023 · Epigenetics
  26. Advances in forensic genetics: Exploring the potential of long read sequencing
    Marcel Rodrigues Ferreira, Thássia Mayra Telles Carratto, Tamara Soledad Frontanilla Recalde, Raphael Severino Bonadio, Miten Jain, Silviene Fabiana de Oliveira, Erick C. Castelli, Celso Teixeira Mendes‐Junior · 2024 · Forensic Science International Genetics
  27. The complete genome of a songbird
    Giulio Formenti, Nivesh Jain, Jack A Medico, Marco Sollitto, Dmitry Antipov, Suziane Alves Barcellos, Matthew T. Biegler, Ines Borges, Jong-How Chang, Ying Chen et al. · 2026 · Cell
  28. Role of Ubiquitination and Epigenetics in the Regulation of AhR Signaling in Carcinogenesis and Metastasis: “Albatross around the Neck” or “Blessing in Disguise”
    Ammad Ahmad Farooqı, Venera S. Rakhmetova, Gulnara Zh. Kapanova, Gulnur Tanbayeva, Akmaral Mussakhanova, Akmaral B. Abdykulova, Alma-Gul Ryskulova · 2023 · Cells
  29. Long‐read sequencing reveals genomic and epigenomic variation in the dark genome of human Alzheimer's disease
    Paulino Ramirez, Wenyan Sun, Shiva Kazempour Dehkordi, Habil Zare, Giovanni Pascarella, Piero Carninci, Bernard Fongang, Kevin F. Bieniek, Bess E Frost · 2025 · Alzheimer s & Dementia
  30. A Chinese SCA36 pedigree analysis of NOP56 expansion region based on long-read sequencing
    Jinlong Zou, Feng‐Yu Wang, Zhenping Gong, Runrun Wang, Daiwen Chen, Haohan Zhang, Ruihua Sun, Chenhao Gao, Wei Li, Junkui Shang et al. · 2023 · Frontiers in Genetics
  31. Evolution and instability of human centromeres are accelerated by heterochromatin boundary loss and CENP-A overexpression
    Megan A. Mahlke, Lior Lumerman, Poulomi Nath, Cy Chittenden, Savannah J. Hoyt, Jonas Koeppel, Yuan Xu, Rebecca Raphael, Kylie Zaffina, Paul W. Hook et al. · 2025 · bioRxiv (Cold Spring Harbor Laboratory)
  32. A telomere-to-telomere map of somatic mutation burden and functional impact in cancer
    Min-Hwan Sohn, Danilo Dubocanin, Mitchell Robert Vollger, Young-Jun Kwon, Anna Minkina, Katherine M. Munson, Samuel F. M. Hart, Jane E. Ranchalis, Nancy L. Parmalee, Adriana Estela Sedeño-Cortés et al. · 2025 · bioRxiv (Cold Spring Harbor Laboratory)
  33. Insights into natural neocentromere evolution from a cattle T2T X chromosome
    Paulene S Pineda, Callum MacPhillamy, Yan Xin Ren, Tong Chen, Luan Zhong, David L. Adelson, Carey Dessaix, José G Pérez-Silva, Leanne S. Haggerty, Fergal J. Martin et al. · 2025 · Nature Communications
  34. Gross Chromosomal Rearrangement at Centromeres
    Ran Xu, Ziyi Pan, Takuro Nakagawa · 2023 · Biomolecules
  35. dHICA: a deep transformer-based model enables accurate histone imputation from chromatin accessibility
    Wen Wen, Jiaxin Zhong, Zhaoxi Zhang, Lijuan Jia, Tinyi Chu, Nating Wang, Charles G. Danko, Zhong Wang · 2024 · Briefings in Bioinformatics
  36. DNA methylation is regulated by both the stability and topology of G-quadruplex
    Saki Matsumoto, Hisae Tateishi‐Karimata, Naoki Sugimoto · 2022 · Chemical Communications
  37. Innate Immunity in Cardiovascular Diseases—Identification of Novel Molecular Players and Targets
    Wolfgang C. Poller, Bettina Heidecker, Enrico Ammirati, Andreas Walter Kuss, Ana Tzvetkova, Wolfram C. Poller, Carsten Skurk, Arash Haghikia · 2023 · Journal of Clinical Medicine
  38. A refined analysis of Neanderthal-introgressed sequences in modern humans with a complete reference genome
    Liang, Shen-Ao, Ren, Tianxin, Zhang, Jiayu, He, Jiahui, Wang, Xuankai, Jiang, Xinrui, He, Yuan, McCoy, Rajiv C., Fu, Qiaomei, Akey, Joshua M. et al. · 2025 · Genome Biology
  39. Analysis of CENP-B Boxes as Anchor of Kinetochores in Centromeres of Human Chromosomes
    Fritz F. Parl · 2024 · Bioinformatics and Biology Insights
  40. SatXplor—a comprehensive pipeline for satellite DNA analyses in complex genome assemblies
    Marin Volarić, Nevenka Meštrović, Evelin Despot-Slade · 2024 · Briefings in Bioinformatics
  41. Genomic and epigenomic maps of mouse centromeres and pericentromeres
    Gitika Chaudhry, Jingyue Chen, Lucy Snipes, Smriti Bahl, Jenika Packiaraj, Xuan Lin, Jitendra Thakur · 2025 · Nature Communications
  42. Cell line-matched reference enables high-precision functional genomics
    Luca Corda, Emilia Volpe, Hamza Dallali, Elena Di Tommaso, Alessio Colantoni, Andrea Guarracino, Sai Swaroop Chittoor, Mattia Capulli, Evelyne Tassone, Simona Giunta · 2025 · Nature Communications
  43. Dynamic interplay between human alpha-satellite DNA structure and centromere functions
    Elena Di Tommaso, Simona Giunta · 2023 · Seminars in Cell and Developmental Biology
  44. Sperm DNA methylation defects in a new mouse model of the 5,10-methylenetetrahydrofolate reductase 677C>T variant and correction with moderate dose folic acid supplementation
    Edgar Martínez Duncker Rebolledo, Donovan Chan, Karen E. Christensen, Alaina M. Reagan, Gareth R. Howell, Rima R. Rozen, Jacquetta M. Trasler · 2024 · Molecular Human Reproduction
  45. Rio1 downregulates centromeric RNA levels to promote the timely assembly of structurally fit kinetochores
    Ksenia Smurova, Michela Damizia, Carmela Irene, Stefania Stancari, Giovanna Berto, Giulia Perticari, Maria Giuseppina Iacovella, Ilaria D’Ambrosio, Maria Giubettini, Réginald Philippe et al. · 2023 · Nature Communications
  46. Repeat DNA methylation is modulated by adherens junction signaling
    Lisa-Marie Brenner, Florian Meyer, Haiqian Yang, Anja Köhler, Pavel Bashtrykov, Ming Guo, Albert Jeltsch, Cristiana Lungu, Monilola A. Olayioye · 2024 · Communications Biology
  47. Structural variation and DNA methylation shape the centromere-proximal meiotic crossover landscape in Arabidopsis
    Joiselle Blanche Fernandes, Matthew Naish, Qichao Lian, Robin Burns, Andrew J. Tock, Fernando A. Rabanal, Piotr Włodzimierz, Anette Habring, Robert E. Nicholas, Detlef Weigel et al. · 2023 · bioRxiv (Cold Spring Harbor Laboratory)
  48. Promoter demethylation of cerebellin 2 by ten-eleven translocation 3 contributes to peripheral sensitization in trigeminal neuropathic pain of mice
    Xinying Guan, Bao-Tong Yuan, Mengna Li, Tian Wang, Lin-Peng Zhu, Siyuan Song, Lulu Ji, Yong‐Jing Gao, Ling-Jie Ma · 2025 · The Journal of Headache and Pain
  49. The path to biotechnological singularity: Current breakthroughs and outlook
    Zhihao Wen, Damin Yang, Yan Yang, Jingyu Hu, Anna Parviainen, Xin Chen, Qiuhui Li, Elizabeth Ann VanDeusen, Jingzhi Ma, Franklin R. Tay · 2025 · Biotechnology Advances
  50. EWAS Open Platform 2026: a deeply integrated resource for epigenome-wide association studies
    Fei Yang, Zhuang Xiong, Wenting Zong, Demian Kong, Bixia Tang, Xupeng Chen, Yaoke Wei, Xiangyu Yu, Yiran Zhang, Dong Zou et al. · 2025 · Nucleic Acids Research
  51. Addressing Technical Pitfalls in Pursuit of Molecular Factors That Mediate Immunoglobulin Gene Regulation
    Eric Engelbrecht, Oscar L. Rodriguez, Corey T. Watson · 2024 · The Journal of Immunology
  52. Label-Free and Sequence-Independent Isothermal Amplification Strategy for the Simultaneous Detection of Genomic 5-Methylcytosine and 5-Hydroxymethylcytosine
    Feng Zhang, Cheng‐Peng Li, Di Yang, Bingqian Liu, Yue Zhou, Zhixu Zhou, Hang Zhong, Zhenchao Wang, Danping Chen · 2025 · Analytical Chemistry
  53. A DNA Force Circuit for Exploring Protein‐Protein Interactions at the Single‐Molecule Level†
    Kangkang Ma, Luoan Xiong, Zhuofei Wang, Xin Hu, Lihua Qu, Xuetong Zhao, Yao Li, Zhongbo Yu · 2024 · Chinese Journal of Chemistry
  54. Telomere-to-telomere sheep genome assembly reveals new variants associated with wool fineness trait
    Ling-Yun Luo, Hui Wu, Liming Zhao, Yahui Zhang, Jia-Hui Huang, Qiuyue Liu, Hai-Tao Wang, Dong-Xin Mo, He-Hua EEr, Lianquan Zhang et al. · 2024 · bioRxiv (Cold Spring Harbor Laboratory)
  55. Biological Sequence Representation Methods and Recent Advances: A Review
    Hongwei Zhang, Yan Shi, Yapeng Wang, Yang Xu, Kefeng Li, Sio‐Kei Im, Yu Du Han · 2025 · Biology
  56. Following the central dogma: Nanopore sequencing from DNA and RNA to proteins
    Yutong Wang, Qian Han, Yilong He, Shumin Deng, Ziwei Huang, Ziyan Zhang, Shuaijian Dai, Zhuxin Dong · 2026 · iScience
  57. G-quadruplex stabilization induces DNA breaks in pericentromeric repetitive DNA sequences in B lymphocytes
    Irina S.-R. Waisertreiger, Kalkidan Ayele, Mehad Hilal Elshaikh, Jacqueline H. Barlow · 2025 · Proceedings of the National Academy of Sciences
  58. The centromere: the punching bag of the chromosome
    Annapaola Angrisani, Daniele Fachinetti · 2025 · Chromosome Research
  59. The dynamic centromere
    Angela Enriquez, Yael Nechemia‐Arbely · 2025 · Chromosome Research
  60. CENP-A: A Histone H3 Variant with Key Roles in Centromere Architecture in Healthy and Diseased States
    Daniel Jeffery, Marina Lochhead, Geneviève Almouzni · 2022 · Results and problems in cell differentiation
  61. Reconstruction of diploid higher-order human 3D genome interactions from noisy Pore-C data using Dip3D
    Ying Chen, Zhuobin Lin, Shaokai Wang, Bo Ming Wu, Longjian Niu, Jiayong Zhong, Yimeng Sun, Zhenxian Zheng, Xin Bai, Luo-Ran Liu et al. · 2025 · Nature Structural & Molecular Biology
  62. Satellite DNAs and human sex chromosome variation
    Monika Čechová, Karen H. Miga · 2022 · Seminars in Cell and Developmental Biology
  63. Rare k-mers reveal centromere haplogroups underlying human diversity and cancer translocations
    Yuichi Shiraishi, Yotaro Ochi, Masahiro Sugawa, Yoshitaka Sakamoto, Keisuke Kimura, Taro Tsujimura, Ai Okada, Rurika Okuda, Shinichi Namba, Tsubasa Miyauchi et al. · 2025 · bioRxiv (Cold Spring Harbor Laboratory)
  64. Phased-assembly-driven pangenome graphs for structural variant genotyping and complex trait mapping in dairy cattle
    Liu Yang, Yahui Gao, Kristen L. Kuhn, Nayan Bhowmik, Wenli Li, G.I. Zanton, Lingzhao Fang, John B. Cole, Congjun Li, R.L. Baldwin et al. · 2026 · Nature Communications
  65. An evolutionarily conserved constellation of functional cis-elements programs the virus-responsive fate of the human (epi)genome
    Marianna A. Koutsi, Marialena Pouliou, Dimitris Chatzopoulos, Lydia Champezou, Konstantinos Zagkas, Marili Vasilogianni, Alexandra G. Kouroukli, Marios Agelopoulos · 2025 · Nucleic Acids Research
  66. RETRACTED AND REPLACED: Genomic context-dependent histone H3K36 methylation by three Drosophila methyltransferases and implications for dedicated chromatin readers
    Muhunden Jayakrishnan, Magdalena Havlová, Václav Veverka, Catherine Regnard, Peter B. Becker · 2024 · Nucleic Acids Research · Retracted
  67. High accuracy methylation identification tools on single molecular level for PacBio HiFi data
    Ying Chen, Bo Wu, Yuying Ding, Longjian Niu, Xin Lai Bai, Zhuobin Lin, Chuan‐Le Xiao · 2024 · bioRxiv (Cold Spring Harbor Laboratory)
  68. Complete Reference Genome and Pangenome Expand Biologically Relevant Information for Genome-Wide DNA Methylation Analysis Using Short-Read Sequencing and Array Data
    Zheng Dong, Joanne Whitehead, Maggie Fu, Julia L. MacIsaac, David H. Rehkopf, Luis Rosero‐Bixby, Michael Steffen Kobor, Keegan D. Korthauer · 2024 · bioRxiv (Cold Spring Harbor Laboratory)
  69. A near-complete human pancreatic cancer genome
    Justin Wagner, Ayşe Gökçe Keşküş, Keisuke K. Oshima, T. Rhyker Ranallo-Benavidez, Jennifer McDaniel, Shu-Cheng Chuang, Mile Šikić, Luis F. Paulin, Luis F. Paulin, Adam C. English et al. · 2026 · bioRxiv (Cold Spring Harbor Laboratory)
  70. Evaluation of Long-Read RNA Sequencing Procedures for Novel Isoform Identification and Quantification in Human Whole Blood
    Hikari Okada, Alessandro Nasti, Yoshio Sakai, Yumie Takeshita, Sadahiro Iwabuchi, Tuyen Thuy Bich Ho, Tomomi Hashiba, Noboru Takata, Takaaki Sato, Takeshi Urabe et al. · 2025 · Genes
  71. Unraveling Non-B DNA Structures in the Era of Telomere-to-Telomere Genomes
    Kateryna D. Makova, Saswat Mohanty, Linnéa Smeds, Jacob P. Sieg, Angelika Lahnsteiner · 2026 · Annual Review of Genomics and Human Genetics
  72. Centromeric footprints preserve telomere integrity in ALT cancers
    Ragini Bhargava, Megan A. Mahlke, Tobias T. Schmidt, Christoph Bartenhagen, Baylee A. Smith, Katherine L. Ramsey, Takoda T. Zuehlke, Ray Wesley Bowman, Michelle Lee Lynskey, Anne R. Wondisford et al. · 2026 · Nature
  73. A telomere-to-telomere map of somatic mutation burden and functional impact in a cancer
    Min-Hwan Sohn, Danilo Dubocanin, Mitchell Robert Vollger, Youngjun Kwon, Anna Minkina, Katherine M. Munson, Samuel F. M. Hart, Jane Ranchalis, Nancy L. Parmalee, Adriana Estela Sedeño-Cortés et al. · 2026 · Cell
  74. Churros: a Docker-based pipeline for large-scale epigenomic analysis
    Jiankang Wang, Ryuichiro Nakato · 2023 · DNA Research
  75. Microsatellite density landscapes illustrate short tandem repeats aggregation in the complete reference human genome
    Yun Xia, Douyue Li, Tingyi Chen, Saichao Pan, Hanrou Huang, Wenxiang Zhang, Yulin Liang, Yongzhuo Fu, Zhuli Peng, Hongxi Zhang et al. · 2024 · BMC Genomics
  76. Complete reference genome and pangenome improve genome-wide detection and interpretation of DNA methylation using sequencing and array data
    Zheng Dong, Joanne Whitehead, Maggie Fu, Julia L. MacIsaac, David H. Rehkopf, Luis Rosero‐Bixby, Michael Steffen Kobor, Keegan D. Korthauer · 2025 · Cell Reports
  77. Mucosal DNA methylome alteration in Crohn’s disease: surgical and non-surgical groups
    Saeed Ahmad, Mia Sands, Eugene Greenberg, Lyn Tangen, Jiacheng Huang, Joseph Irudayaraj · 2023 · Frontiers in Genetics
  78. RepEnTools: an automated repeat enrichment analysis package for ChIP-seq data reveals hUHRF1 Tandem-Tudor domain enrichment in young repeats
    Michel Choudalakis, Pavel Bashtrykov, Albert Jeltsch · 2024 · Mobile DNA
  79. The silent guardian: unraveling the roles of H3K9me3 in genome maintenance
    Zhiming Li, Zhiguo Zhang · 2024 · Genome Instability & Disease
  80. Identification and annotation of centromeric hypomethylated regions with Centromere Dip Region (CDR)-Finder
    Francesco Kumara Mastrorosa, Keisuke K. Oshima, Allison N. Rozanski, William T. Harvey, Evan E. Eichler, Glennis A. Logsdon · 2024 · bioRxiv (Cold Spring Harbor Laboratory)
  81. Haplotype-Resolved Genomics Reveals Conserved Chromatin Architecture and Epigenetic Constraints of Human Neocentromeres
    Savannah J. Hoyt, Gabrielle A. Hartley, Mariah C. Antopia, Thomas W. Tullius, Dylan J. Taylor, Nicole M Tillquist, Shane J. Neph, Nicole Pauloski, Katherine M. Munson, Kendra Hoekzema et al. · 2025 · bioRxiv (Cold Spring Harbor Laboratory)
  82. Haplotype-resolved centromeric chromatin organization from a complete diploid human genome
    Yuan Xu, Hailey Loucks, Julian M. Menendez, Fedor Ryabov, Julian Lucas, Monika Čechová, Luke B Morina, Emily Xu, Danilo Dubocanin, Cy Chittenden et al. · 2026 · bioRxiv (Cold Spring Harbor Laboratory)
  83. Graft-seq precisely maps RNA modifications via site-specific chemical grafting strategy
    Ting Li, Ke Ding, Ziming Bao, Quan Ma, Chenyang Huang, Jie Cao, Xiao Shu, Minsong Gao, Zisheng Luo, Xushen Xiong et al. · 2025 · Cell Reports Methods
  84. The Influence of CG sites on dynamic DNA sequence mutagenesis in the genomic evolution of mammalian lifespan
    Steven S. Smith · 2025 · Nucleic Acids Research
  85. How structural variation shapes the cancer epigenome
    Signe MacLennan, Marco A. Marra · 2025 · Trends in cancer
  86. Complete chromosome 21 centromere sequencing of families with Down syndrome
    Francesco Kumara Mastrorosa, Alessia Daponte, Luciana de Gennaro, Shu-Cheng Chuang, Jiadong Lin, Yang Sui, David Porubskỳ, Keisuke K. Oshima, Julie Wertz, Allison N. Rozanski et al. · 2026 · The American Journal of Human Genetics
  87. Structure and function of the centromere and inner kinetochore
    Rachel R. Brown, Pim J. Huis in ’t Veld, Andrea Musacchio, Aaron F. Straight · 2026 · Nature Reviews Molecular Cell Biology
  88. Phased T2T horse and donkey assemblies from a mule reveal peculiar equid centromere evolution
    Kai Li, Eleonora Cappelletti, Carey Dessaix, Julia L. Ciosek, Emily D. Robyn, Lauren Johnson, Nahla Hussien AbouEl Ela, Xiomara R. Arias, David L. Adelson, Terje Raudsepp et al. · 2026 · Cell Genomics
  89. Grand challenge in chromatin epigenomics: everything, everywhere, all at once
    Sharon Dent · 2023 · Frontiers in Epigenetics and Epigenomics
  90. Diagnostic Algorithm to Subclassify Atypical Spitzoid Tumors in Low and High Risk According to Their Methylation Status
    José González, Beatriz Sánchez‐Sendra, Carlos Couceiro Monteagudo · 2023 · International Journal of Molecular Sciences
  91. Bridging scales in chromatin organization: Computational models of loop formation and their implications for genome function.
    Shingo Tsukamoto, Mohammad R. K. Mofrad · 2025 · Journal of Chemical Physics
  92. Case Report: Optical genome mapping enables identification of complex balanced chromosomal rearrangements
    Xiaohang Hu, Jing Guo, Haiyang Sang, Jinyan Yan, Hong Chang, Ting Liu, Haixin Dong, Min Kyung Kong, Yanjun Tian, Liqing Jiang · 2025 · Frontiers in Genetics
  93. Novel Concept of Alpha Satellite Cascading Higher-Order Repeats (HORs) and Precise Identification of 15mer and 20mer Cascading HORs in Complete T2T-CHM13 Assembly of Human Chromosome 15
    Matko Glunčić, Ines Vlahović, Marija Rosandić, V. Paar · 2024 · International Journal of Molecular Sciences
  94. Novel Cascade Alpha Satellite HORs in Orangutan Chromosome 13 Assembly: Discovery of the 59mer HOR—The largest Unit in Primates—And the Missing Triplet 45/27/18 HOR in Human T2T-CHM13v2.0 Assembly
    Matko Glunčić, Ines Vlahović, Marija Rosandić, V. Paar · 2024 · International Journal of Molecular Sciences
  95. A Review on Epigenetics of Human Inherited Diseases: Molecular Diagnosis
    Bibi Shazia Sabir · 2024 · International Journal of Innovative Science and Research Technology (IJISRT)
  96. Precise identification of cascading alpha satellite higher order repeats (HORs) in T2T-CHM13 assembly of human chromosome 3
    Matko Glunčić, Ines Vlahović, Marija Rosandić, V. Paar · 2024 · Croatian Medical Journal
  97. The final pieces of the human genome
    Michael Attwaters · 2022 · Nature Reviews Genetics
  98. A refined characterization of large-scale genomic differences in the first complete human genome
    Xiangyu Yang, Xuankai Wang, Yawen Zou, Shilong Zhang, Manying Xia, Mitchell Robert Vollger, Nae-Chyun Chen, Dylan J. Taylor, William T. Harvey, Glennis A. Logsdon et al. · 2022 · bioRxiv (Cold Spring Harbor Laboratory)
  99. Editorial: Epigenomic contributions to autism spectrum disorders
    Anna Starnawska, Magdalena Janecka · 2023 · Frontiers in Neuroscience
  100. RT2T: A Global Collaborative Project to Study Chromosomal Evolution in the Suborder Ruminantia
    Ted Kalbfleisch, Stephanie McKay, Brenda M. Murdoch, David L. Adelson, Diego Almansa-Villa, Gabrielle M. Becker, Linda M. Beckett, María José Benítez-Galeano, Fernando H. Biase, Theresa Casey et al. · 2024 · Research Square