Segmental duplications and their variation in a complete human genome

Vollger, Mitchell R., Guitart, Xavi, Dishuck, Philip C., Mercuri, Ludovica, Harvey, William T., Gershman, Ariel, Diekhans, Mark, Sulovari, Arvis +12 more·2022·Science

Cited by (373)

Items 101–200 of 373

  1. Investigating the significance of segmental aneuploidy findings in preimplantation embryos
    Ludovica Picchetta, Christian Simon Ottolini, Helen C. O’Neill, Antonio Capalbo · 2023 · F&S Science
  2. Structural variation, selection, and diversification of the NPIP gene family from the human pangenome
    Philip C. Dishuck, Katherine M. Munson, Alexandra P. Lewis, Max L. Dougherty, Jason G. Underwood, William T. Harvey, PingHsun Hsieh, Tomi Pastinen, Evan E. Eichler · 2025 · Cell Genomics
  3. RNA sequencing and target long-read sequencing reveal an intronic transposon insertion causing aberrant splicing
    Ryota Kawakami, Takuya Hiraide, Kazuki Watanabe, Sachiko Miyamoto, Kota Hira, Kazuyuki Komatsu, Hidetoshi Ishigaki, Kimiyoshi Sakaguchi, Masato Maekawa, Keita Yamashita et al. · 2023 · Journal of Human Genetics
  4. Impact of genome build on RNA-seq interpretation and diagnostics
    Rachel A. Ungar, Pagé C. Goddard, Tanner D. Jensen, Fabien Degalez, Kevin S. Smith, Christopher A. Jin, Undiagnosed Diseases Network, Devon E. Bonner, Jonathan Adam Bernstein, Matthew Thomas Wheeler et al. · 2024 · The American Journal of Human Genetics
  5. Structural variation in humans and our primate kin in the era of telomere-to-telomere genomes and pangenomics
    Joana L. Rocha, Runyang Nicolas Lou, Peter H. Sudmant · 2024 · Current Opinion in Genetics & Development
  6. Impact and characterization of serial structural variations across humans and great apes
    Wolfram Höps, Tobias Rausch, Michael Jendrusch, Hufsah Ashraf, Peter A. Audano, Ola Austine, Anna O. Basile, Christine R. Beck, Marc Jan Bonder, Marta Byrska-Bishop et al. · 2024 · Nature Communications
  7. 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
  8. Dispensable genome and segmental duplications drive the genome plasticity in Fusarium solani
    Abbeah Mae Navasca, Jatinder Singh, Viviana V. Rivera-Varas, Upinder Gill, Gary A. Secor, Thomas T. Baldwin · 2025 · Frontiers in Fungal Biology
  9. A near telomere-to-telomere genome assembly of the Jinhua pig: enabling more accurate genetic research
    Caiyun Cao, Jian Miao, Qinqin Xie, Jiabao Sun, Hong Cheng, Zhenyang Zhang, Fen Wu, Shuang Liu, Xiaowei Ye, Huanfa Gong et al. · 2025 · GigaScience
  10. The Assembled Genome of the Stroke-Prone Spontaneously Hypertensive Rat
    Ted Kalbfleisch, Nahla Hussien AbouEl Ela, Kai Li, Wesley A. Brashear, Kelli J. Kochan, Andrew Hillhouse, Yaming Zhu, Isha S. Dhande, Eric J. Kline, Elizabeth Hudson et al. · 2022 · Hypertension
  11. Microdeletions and microduplications linked to severe congenital disorders in infertile men
    Triin Kikas, Anna Maria Punab, Laura Kasak, Olev Poolamets, Vladimir Vihljajev, Kristjan Pomm, Mario Reiman, Stanislav Tjagur, Paul Korrovits, Margus Punab et al. · 2023 · Scientific Reports
  12. 270th ENMC International Workshop: Consensus for SMN2 genetic analysis in SMA patients 10–12 March, 2023, Hoofddorp, the Netherlands
    Emanuela Abiusi, Mar Costa‐Roger, Enrico Bertini, Francesco Danilo Tiziano, Eduardo Fidel Tizzano, Emanuela Abiusi, Giovanni Baranello, Enrico Bertini, François Boemer, Arthur H.M. Burghes et al. · 2023 · Neuromuscular Disorders
  13. Phylogenomic analysis of cytochrome P450 multigene family and its differential expression analysis in pepper (Capsicum annuum L.)
    Yupeng Hao, Zeyu Dong, Yongyan Zhao, Wenchen Tang, Xueqiang Wang, Jun Li, Luyao Wang, Yan Wei Hu, Lei Fang, Xueying Guan et al. · 2022 · Frontiers in Plant Science
  14. Applications of advanced technologies for detecting genomic structural variation
    Vincent A. Laufer, Thomas W. Glover, Thomas E. Wilson · 2023 · Mutation Research/Reviews in Mutation Research
  15. GWAS advancements to investigate disease associations and biological mechanisms
    Oluwaferanmi Omidiran, Aashna Patel, Sarah Usman, Ishani Mhatre, Habiba Abdelhalim, William DeGroat, Rishabh Narayanan, Kritika Singh, Dinesh Mendhe, Zeeshan Ahmed · 2024 · Clinical and Translational Discovery
  16. Evolutionary tinkering enriches the hierarchical and nested structures in amino acid sequences
    Zecheng Zhang, Chunxiuzi Liu, Yingjun Zhu, Peng Lu, Weiyi Qiu, Qian-Yuan Tang, Liu He, Ke Zhang, Zengru Di, Yu Liu · 2024 · Physical Review Research
  17. A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders
    Arthur S. Lee, Lauren J. Ayers, Michael Kosicki, Wai Man Chan, Lydia Fozo, Brandon M. Pratt, Thomas E. Collins, Boxun Zhao, Matthew F. Rose, Alba Sanchis‐Juan et al. · 2024 · Nature Communications
  18. Evolutionary Dynamics of Proinflammatory Caspases in Primates and Rodents
    Mische Holland, Rachel Rutkowski, Tera C. Levin · 2024 · Molecular Biology and Evolution
  19. 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
  20. GAVISUNK: genome assembly validation via inter-SUNK distances in Oxford Nanopore reads
    Philip C. Dishuck, Allison N. Rozanski, Glennis A. Logsdon, David Porubskỳ, Evan E. Eichler · 2022 · Bioinformatics
  21. Accurate allocation of multimapped reads enables regulatory element analysis at repeats
    Alexis Morrissey, Jeffrey Shi, Daniela Q. James, Shaun Mahony · 2024 · Genome Research
  22. Chromosome-level genome assembly of the cashmere goat
    Zhiying Wang, Qi Lv, Wenze Li, Wanlong Huang, Gao Gong, Xiaochun Yan, Baichuan Liu, Oljibilig Chen, Na Wang, Yanjun Zhang et al. · 2024 · Scientific Data
  23. CiFi: accurate long-read chromosome conformation capture with low-input requirements
    Sean P. McGinty, Gulhan Kaya, Sheina B. Sim, Alex Makunin, Renée L. Corpuz, Michael Andrew Quail, Mohamed Abuelanin, Mara Lawniczak, Scott M. Geib, Jonas Korlach et al. · 2025 · Nature Communications
  24. Ancient segmentally duplicated LCORL retrocopies in equids
    Kevin Batcher, Scarlett Varney, Terje Raudsepp, Matthew J. Jevit, Peter J. Dickinson, Vidhya Jagannathan, Tosso Leeb, Danika L. Bannasch · 2023 · PLoS ONE
  25. 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
  26. Expanding studies of chromosome structure and function in the era of T2T genomics
    Karen H. Miga, Beth A. Sullivan · 2021 · Human Molecular Genetics
  27. USAT: a bioinformatic toolkit to facilitate interpretation and comparative visualization of tandem repeat sequences
    Xuewen Wang, Bruce Budowle, Jianye Ge · 2022 · BMC Bioinformatics
  28. Brain developmental and cortical connectivity changes in transgenic monkeys carrying the human-specific duplicated gene SRGAP2C
    Xiaoyu Meng, Qiang Lin, Xuerui Zeng, Jin Jiang, Min Li, Xin Luo, Kaimin Chen, Haixu Wu, Yan Hu, Cirong Liu et al. · 2023 · National Science Review
  29. More than the SRY: The Non-Coding Landscape of the Y Chromosome and Its Importance in Human Disease
    Emily S. Westemeier-Rice, Michael T. Winters, Travis W. Rawson, Iván Martínez · 2024 · Non-Coding RNA
  30. Benefit-Sharing by Design: A Call to Action for Human Genomics Research
    Ann M. Mc Cartney, Amber Hartman Scholz, Mathieu Groussin, Ciara Staunton · 2024 · Annual Review of Genomics and Human Genetics
  31. A combination of long- and short-read genomics reveals frequent p-arm breakpoints within chromosome 21 complex genomic rearrangements
    Jakob Schuy, Kristine Bilgrav Sæther, Jasmin Lisfeld, Marlene Ek, Christopher M. Grochowski, Ming Yin Lun, Alex R. Hastie, Susanne Rudolph, Sigrid Fuchs, Kornelia Neveling et al. · 2024 · Genetics in Medicine Open
  32. SVLearn: a dual-reference machine learning approach enables accurate cross-species genotyping of structural variants
    Qimeng Yang, Jianfeng Sun, Xinyu Wang, Jiong Wang, Quanzhong Liu, Jinlong Ru, Xin Zhang, Sizhe Wang, Ran Hao, Peipei Bian et al. · 2025 · Nature Communications
  33. Copy Number Variation and Osteoporosis
    Nika Lovšin · 2023 · Current Osteoporosis Reports
  34. Loss of Chromosome Y in Neuroblastoma Is Associated With High‐Risk Disease, 11q‐Deletion, and Telomere Maintenance
    Anna Djos, Johanna Svensson, Jennie Gaarder, Ganesh Umapathy, Staffan Nilsson, Torben Ek, Hartmut Vogt, Kleopatra Georgantzi, Ingrid Øra, Catarina Träger et al. · 2024 · Genes Chromosomes and Cancer
  35. Whole-Genome Sequencing Improves the Diagnosis of DFNB1 Monoallelic Patients
    Anaïs Le Nabec, Mégane Collobert, Cédric Le Maréchal, Rémi Marianowski, Claude Férec, Stéphanie Moisan · 2021 · Genes
  36. The Landscape of Single Nucleotide Polymorphisms in Papillary Thyroid Carcinoma
    Efthymios Kyrodimos, Aristeidis Chrysovergis, NICHOLAS S. MASTRONIKOLIS, GEORGE PAPANASTASIOU, Evangelos Tsiambas, Despοina Spyropoulou, Spyros Katsinis, Arezina Manoli, Sotirios M. Papouliakos, PAVLOS PANTOS et al. · 2022 · Cancer Diagnosis & Prognosis
  37. Sequencing approaches in hereditary cancer testing: strengths, limitations and future directions
    Sami Belhadj, Christopher J. Hatch, Holly LaDuca, Carolyn Horton, Seth I. Berger, Rachid Karam · 2026 · European Journal of Human Genetics
  38. Systems Biology
    Leszek Konieczny, Irena Roterman-Konieczna, Paweł Spólnik · 2023 · Springer eBooks
  39. Structural Variation Evolution at the 15q11-q13 Disease-Associated Locus
    Annalisa Paparella, Alberto L’Abbate, Donato Palmisano, Gerardina Chirico, David Porubskỳ, Claudia Rita Catacchio, Mario Ventura, Evan E. Eichler, Flavia Angela Maria Maggiolini, Francesca Antonacci · 2023 · International Journal of Molecular Sciences
  40. The T2T-CHM13 reference assembly uncovers essential WASH1 and GPRIN2 paralogues
    Daniel Cerdán-Vélez, Michael L. Tress · 2024 · Bioinformatics Advances
  41. Exploring biomarkers for prognosis and neoadjuvant chemosensitivity in rectal cancer: Multi-omics and ctDNA sequencing collaboration
    Xiufeng Jiang, Bomiao Zhang, Fenqi Du, Junnan Guo, Dan Wang, Yi-En Li, Shen-Hui Deng, Binbin Cui, Yanlong Liu · 2022 · Frontiers in Immunology
  42. 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
  43. Single-strand mismatch and damage patterns revealed by single-molecule DNA sequencing
    Mei Hong Liu, Benjamin M. Costa, Una Choi, Rachel C. Bandler, Emilie Lassen, Marta Grońska-Pęski, Adam Schwing, Zachary R. Murphy, Daniel Rosenkjær, Shany Picciotto et al. · 2023 · bioRxiv (Cold Spring Harbor Laboratory)
  44. 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
  45. Resolving the 22q11.2 deletion using CTLR-Seq reveals chromosomal rearrangement mechanisms and individual variance in breakpoints
    Bo Zhou, Carolin Purmann, Hanmin Guo, Gi Won Shin, Yi‐Ling Huang, Reenal Pattni, Qingxi Meng, Stephanie Greer, Tanmoy Roychowdhury, Raegan N. Wood et al. · 2024 · Proceedings of the National Academy of Sciences
  46. A hominoid-specific signaling axis regulating the tempo of synaptic maturation
    Jian Dong, Xiao-Na Zhu, Peng-Ming Zeng, Dong-Dong Cao, Yang Yang, Ji Hu, Zhen‐Ge Luo · 2024 · Cell Reports
  47. Long read and preliminary pangenome analyses reveal breed-specific structural variations and novel sequences in Holstein and Jersey cattle
    Yahui Gao, Liu Yang, Kristen L. Kuhn, Wenli Li, G.I. Zanton, Mary Bowman, Pengju Zhao, Yang Zhou, Lingzhao Fang, John B. Cole et al. · 2025 · Journal of Advanced Research
  48. 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
  49. A pangenome reference and population studies link structural variants with breeding traits in Gossypium hirsutum.
    Yan Zhang, Zheng-Wen Sun, Shilin Tian, Li-Qiang Wu, Qi-Shen Gu, H. Ke, Gui-Yin Zhang, Bin Chen, Zhicheng Wang, Jin Zhang et al. · 2026 · Nature Genetics
  50. Comparative Genomic Analysis of Asian Cultivated Rice and Its Wild Progenitor (Oryza rufipogon) Has Revealed Evolutionary Innovation of the Pentatricopeptide Repeat Gene Family through Gene Duplication
    Li-Ying Feng, Peifan Lin, Rong-Jing Xu, Hai-Qi Kang, Li‐Zhi Gao · 2023 · International Journal of Molecular Sciences
  51. Subtelomeric plasticity contributes to gene family expansion in the human parasitic flatworm Schistosoma mansoni
    Brann, T, Beltramini, A, Chaparro, C, Berriman, M, Doyle, SR, Protasio, AV · 2024 · BMC Genomics
  52. Pairwise graph edit distance characterizes the impact of the construction method on pangenome graphs
    Siegfried Dubois, Matthias Zytnicki, Claire Lemaitre, Thomas Faraut · 2025 · Bioinformatics
  53. 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
  54. Metabolic benefits conferred by duplication of the facilitated trehalose transporter in Lepidoptera
    Tao Zhong, Guosheng Hua, Chaojie Chen, Guanwang Shen, Zhiqing Li, Xiaoting Hua, Ping Lin, Ping Zhao, Qingyou Xia · 2025 · Insect Science
  55. Population-level structural variant characterization using pangenome graphs
    Songbo Wang, Tun Xu, Pengyu Zhang, Kai Ye · 2026 · Nature Genetics
  56. Approaching an error-free diploid human genome using a support-based validation framework
    Yanan Chu, Zhuo Huang, Changjun Shao, Shuming Guo, Yiji Yang, Xinyao Yu, Yurong Luo, Jian Wang, Yabin Tian, Jing Chen et al. · 2026 · The Innovation
  57. PhaseDancer: a novel targeted assembler of segmental duplications unravels the complexity of the human chromosome 2 fusion going from 48 to 46 chromosomes in hominin evolution
    Barbara Poszewiecka, Krzysztof Gogolewski, Justyna A. Karolak, Paweł Stankiewicz, Anna Gambin · 2023 · Genome biology
  58. ELOA3 : A primate-specific RNA polymerase II elongation factor encoded by a tandem repeat gene cluster
    Marc A. Morgan, Saeid Mohammad Parast, Marta Iwanaszko, Yuki Aoi, DongAhn Yoo, Zachary J. Dumar, Benjamin C. Howard, Kathryn A. Helmin, Qianli Liu, William R. Thakur et al. · 2023 · Science Advances
  59. Characterization of the genetic variation and evolutionary divergence of the CLEC18 family
    Che‐Mai Chang, Wei‐Chiao Chang, Shie-Liang Edmond Hsieh · 2024 · Journal of Biomedical Science
  60. 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
  61. How our brains are built: emerging approaches to understand human-specific features
    Nicole D. Moss, Davoneshia Lollis, Debra L. Silver · 2024 · Current Opinion in Genetics & Development
  62. From complete genomes to pangenomes
    Karen H. Miga · 2024 · The American Journal of Human Genetics
  63. Increased mutation rate and interlocus gene conversion within human segmental duplications
    Mitchell Robert Vollger, William S. DeWitt, Philip C. Dishuck, William T. Harvey, Xavi Guitart, Michael E. Goldberg, Allison N. Rozanski, Julian Lucas, Mobin Asri, Katherine M. Munson et al. · 2022 · bioRxiv (Cold Spring Harbor Laboratory)
  64. Long-read sequencing and genome assembly of natural history collection samples and challenging specimens
    Bernhard Bein, Ioannis Chrysostomakis, Larissa Souza Arantes, Tom Brown, Charlotte Gerheim, Tilman Schell, Clément Schneider, Evgeny V. Leushkin, Zeyuan Chen, Julia D. Sigwart et al. · 2024 · bioRxiv (Cold Spring Harbor Laboratory)
  65. 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)
  66. Complete de novo assembly and re-annotation of the zebrafish genome
    Javan Okendo, Sergey Koren, Arang Rhie, Aranza Torrado-Tapias, Brandon D. Pickett, Shelise Y. Brooks, Gerard G. Bouffard, Juyun Crawford, Christina Sison, Vinita Joardar et al. · 2025 · bioRxiv (Cold Spring Harbor Laboratory)
  67. Comprehensive analysis across SMN2 excludes DNA methylation as an epigenetic biomarker for spinal muscular atrophy
    Maria M Zwartkruis, Joris V Kortooms, Demi Gommers, Martin Elferink, Ilaria Signoria, Joyce van der Sel, Paul J. Hop, Ramona A.J. Zwamborn, Robin Geene, Jared W Green et al. · 2025 · iScience
  68. Association of human-specific expanded short tandem repeats with neuron-specific regulatory features
    Qiming Liu, Weidong Tian · 2025 · Science Advances
  69. A global map for introgressed structural variation and selection in humans
    PingHsun Hsieh, Natthapon Soisangwan, David Gordon, Athef Javidh, William T. Harvey, David Porubskỳ, Kendra Hoekzema, Carl A. Baker, Katherine M. Munson, Christopher Kinipi et al. · 2026 · Science
  70. 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
  71. Genotyping sequence-resolved copy number variation using pangenomes reveals paralog-specific global diversity and expression divergence of duplicated genes
    Walfred Ma, Mark Chaisson · 2025 · Nature Genetics
  72. Evolutionary Balancing of Genetic Consequence and Innovation in Mammals Through Variable Number Tandem Repeats
    Petar Pajic, Ömer Gökçümen · 2025 · Genome Biology and Evolution
  73. Following the central dogma: Nanopore sequencing from DNA and RNA to proteins
    Yu-Tong Wang, Qian Han, Yi-Long He, Shumin Deng, Ziwei Huang, Zi-Yan Zhang, Shuaijian Dai, Zhuxin Dong · 2026 · iScience
  74. Genetic diversity and regulatory features of human-specific NOTCH2NL duplications
    Taylor D. Real, Prajna Hebbar, DongAhn Yoo, Francesca Antonacci, Ivana Pačar, Danilo Dubocanin, Mark Diekhans, Gregory J Mikol, Oyeronke G. Popoola, Benjamin J. Mallory et al. · 2026 · Cell Genomics
  75. Understanding the Emergence of Schizophrenia in the Light of Human Evolution: New Perspectives in Genetics
    Veronica Sandroni, Boris Chaumette · 2025 · Genes Brain & Behavior
  76. ParaMask: a new method to identify multicopy genomic regions, corrects major biases in whole-genome sequencing data
    Bastiaan Tjeng, Male Arimond, Helene Bråten Grindeland, Andrea Dalla Libera, Andrea Fulgione · 2025 · Genome biology
  77. Inversion polymorphism in a complete human genome assembly
    David Porubskỳ, William T. Harvey, Allison N. Rozanski, Jana Ebler, Wolfram Höps, Hufsah Ashraf, Patrick Hasenfeld, Benedict Paten, Ashley D. Sanders, Tobias Marschall et al. · 2022 · bioRxiv (Cold Spring Harbor Laboratory)
  78. Keeping the balance: Trade-offs between human brain evolution, autism, and schizophrenia
    Eryk Duński, Aleksandra Pękowska · 2022 · Frontiers in Genetics
  79. A de novo deletion underlying spinal muscular atrophy: implications for carrier testing and genetic counseling
    Maria M Zwartkruis, Mirjam S. de Pagter, Demi Gommers, Marije Koopmans, Cecile P. E. Ottenheim, Joris V Kortooms, Mirjan Albring, Martin Elferink, Renske I. Wadman, Fay‐Lynn Asselman et al. · 2025 · Human Molecular Genetics
  80. SSLCNV: A Semi-supervised Learning Framework for Accurate Copy Number Variation Detection.
    Ruchao Du, Jinxin Dong, Hua Jiang, Min-Yong Qi, Yuxi Zhang, Ranran Sun, Mengke Xu · 2025 · Interdisciplinary Sciences Computational Life Sciences
  81. Genome-Wide Analysis and Characterization of CYP450 Gene Family in Tobacco (Nicotiana tabacum L)
    Yunfei Sha, Senwen Yu, Zhenbo Cai, Zhe Zhang, Kangkang Song, Long Yang, Xia Shao · 2026 · Plant Molecular Biology Reporter
  82. Advancing evolutionary medicine with complete primate genomes and advanced biotechnologies
    Kaiyue Ma, Xiangyu Yang, Yafei Mao · 2024 · Trends in Genetics
  83. JoGo 1.0: the ACTG hierarchical nomenclature and database covering 4.7 million haplotypes across 19,194 human genes
    Masao Nagasaki, Toshiaki Katayama, Yuki Moriya, Yayoi Sekiya, Shuichi Kawashima, Ryo Teraoka, Shuto Machida, Taichi Matsubara, Hiroki Hashimoto, Akihiro Asakura et al. · 2025 · Nucleic Acids Research
  84. Near complete assembly of Drosophila melanogaster Canton S strain genome
    Yan-Nan Liu, Jian-Jun Gao, Xiao-Lin Zhuang, Dong-Dong Wu, Yan-Bo Sun · 2025 · Nature Communications
  85. Rare disease genomics in an era of human pangenomics and telomere-to-telomere genome references
    Chiara L Folland, Gavin Monahan, James Breen, Mridul Johari, Hardip R. Patel, Gianina Ravenscroft · 2026 · European Journal of Human Genetics
  86. Characterization of extrachromosomal circular DNA associated with genomic repeat sequences in breast cancer
    Wenxiang Lu, Lingsong Yao, Ying Wang, Fuyu Li, Bingbo Zhou, Wenlong Ming, Yali Jiang, Xiaoan Liu, Yun Liu, Xiao Song Sun et al. · 2025 · International Journal of Cancer
  87. SVA Retrotransposons and a Low Copy Repeat in Humans and Great Apes: A Mobile Connection
    Annette Damert · 2022 · Molecular Biology and Evolution
  88. Characterizing the genetic polymorphisms in 370 challenging medically relevant genes using long-read sequencing data from 41 human individuals among 19 global populations
    Yanfeng Ji, Jiao Gong, Fritz Joachim Sedlazeck, Shaohua Fan · 2022 · bioRxiv (Cold Spring Harbor Laboratory)
  89. TandemAligner: a new parameter-free framework for fast sequence alignment
    Andrey V. Bzikadze, Pavel A. Pevzner · 2022 · bioRxiv (Cold Spring Harbor Laboratory)
  90. Diversity and Evolution of Human Cortical Progenitor Cell Types
    Alex A. Pollen, Arnold R. Kriegstein · 2023 · Wiley eBooks
  91. A closed-loop method for precise genome size estimation using HiFi reads
    Jian-Feng Xing, Jiangshan Hao, Chao-Rong Tang, Shang-Qian Xie, Kaiye Liu · 2025 · BMC Genomics
  92. TERRA transcripts and promoters from telomeric and interstitial sites
    Marco Santagostino, Lorenzo Sola, Eleonora Cappelletti, Francesca M. Piras, Nicolò Gennari, Marialaura Biundo, Solomon G. Nergadze, Elena Giulotto · 2025 · RNA
  93. Population differences of chromosome 22q11.2 duplication structure predispose differentially to microdeletion and inversion
    David Porubskỳ, DongAhn Yoo, Nidhi Koundinya, Erika L. Souche, Philip C. Dishuck, Nicolas Dierckxsens, William T. Harvey, Katherine M. Munson, Kendra Hoekzema, Daniel D. Chan et al. · 2026 · Nature Communications
  94. Somatic epimutations cap genetic determinism in the human diploid chromatin epigenome
    Mitchell Robert Vollger, Elliott G. Swanson, Shane J. Neph, Benjamin J. Mallory, Danilo Dubocanin, Ching‐Huang Ho, Yong-Han Hank Cheng, Jane Ranchalis, Katherine M. Munson, Adriana Estela Sedeño-Cortés et al. · 2026 · Cell
  95. A multilocus approach for accurate variant calling in low-copy repeats using whole-genome sequencing
    Timofey Prodanov, Vikas Bansal · 2023 · Bioinformatics
  96. 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
  97. Decoding human brain evolution: Insights from genomics
    Yuting Liu, Mingli Li, Ashlea Segal, Menglei Zhang, Nenad Šestan · 2025 · Current Opinion in Neurobiology
  98. Tumor Suppressor Genes with Segmental Duplications Are Prone to Somatic Deletions and Structural Variations
    Ziheng Huang, Lin Zhang, Huarong Chen, Xiaodong Liu, Likai Tan, Dan Huang, Yingzhi Liu, Yushan Wang, Xinyi Zhang, Alfred S.L. Cheng et al. · 2025 · Cancer Research
  99. 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
  100. LYCEUM: learning to call copy number variants on low-coverage ancient genomes
    Mehmet Alper Yılmaz, Ahmet Arda Ceylan, Gün Kaynar, A. Ercüment Çiçek · 2025 · Bioinformatics