The impact of structural variation on human gene expression

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Items 201–300 of 519

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15. Construction of a trio-based structural variation panel utilizing activated T lymphocytes and long-read sequencing technology
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18. A strategy for building and using a human reference pangenome
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20. Long non-coding RNA gene regulation and trait associations across human tissues
    O. D. de Goede, N. Ferraro, D. Nachun, Abhiram S. Rao, F. Aguet, A. Barbeira, S. Castel, S. Kim-Hellmuth, Y. Park, A. Scott et al. · 2019 · bioRxiv
21. Transcriptomics and chromatin accessibility in multiple African population samples
    Marianne K. DeGorter, Pagé C. Goddard, Emre Karakoç, Soumya Kundu, Stephanie M. Yan, Daniel C. Nachun, Nathan S. Abell, Matthew Aguirre, Tommy Carstensen, Ziwei Chen et al. · 2023 · bioRxiv (Cold Spring Harbor Laboratory)
22. Imputation of structural variants using a multi-ancestry long-read sequencing panel enables identification of disease associations
    Boris Noyvert, Abdullah Mesut Erzurumluoglu, Dmitriy Drichel, Steffen Omland, Till F. M. Andlauer, Stefanie Mueller, Lau Sennels, Christian Becker, Aleksandr Kantorovich, Boris Bartholdy et al. · 2023 · medRxiv
23. Genome-wide analysis of deletions in maize population reveals abundant genetic diversity and functional impact
    Xiao Zhang, Yonghui Zhu, Karl A. G. Kremling, M. Cinta Romay, Robert Bukowski, Qi Sun, Shibin Gao, Edward S. Buckler, Fei Lü · 2021 · Theoretical and Applied Genetics
24. Detection and analysis of complex structural variation in human genomes across populations and in brains of donors with psychiatric disorders
    Bo Zhou, Joseph G. Arthur, Hanmin Guo, Taeyoung Kim, Yi‐Ling Huang, Reenal Pattni, Tao Wang, Soumya Kundu, Jay X. J. Luo, HoJoon Lee et al. · 2024 · Cell
25. Graphical pangenomics-enabled characterization of structural variant impact on gene expression in Brassica napus
    Gözde Yildiz, Silvia F. Zanini, Sven E. Weber, Venkataramana Kopalli, Tobias Kox, Amine Abbadi, Rod J. Snowdon, Agnieszka A. Golicz · 2025 · Theoretical and Applied Genetics
26. Focused Strategies for Defining the Genetic Architecture of Congenital Heart Defects
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27. Whole‐genome sequencing reveals breed‐differential CNVs between Tongcheng and Large White pigs
    Qijun Wu, Yongming Zhou, Y. Wang, Yongcheng Zhang, Y. Shen, Q. Su, G. Gao, H. Xu, Xiang Zhou, Bang Liu · 2020 · Animal Genetics
28. Toward the functional interpretation of somatic structural variations: bulk- and single-cell approaches
    Dohun Yi, Jin‐Wu Nam, Hyobin Jeong · 2023 · Briefings in Bioinformatics
29. Engineering structural variants to interrogate genome function
    Jonas Koeppel, Juliane Weller, Thomas Vanderstichele, Leopold Parts · 2024 · Nature Genetics
30. Scrutinizing neurodegenerative diseases: decoding the complex genetic architectures through a multi-omics lens
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31. The Landscape of Structural Variation in Aye-Ayes (Daubentonia madagascariensis)
    Cyril J. Versoza, Jeffrey D. Jensen, Susanne P. Pfeifer · 2025 · Genome Biology and Evolution
32. Diallel panel reveals a significant impact of low-frequency genetic variants on gene expression variation in yeast
    Andreas Tsouris, Gauthier Brach, Anne Friedrich, Jing Hou, Joseph Schacherer · 2024 · Molecular Systems Biology
33. Cognitive Genomics: Recent Advances and Current Challenges
    Joan C. Fitzgerald, Derek W. Morris, Gary J Donohoe · 2020 · Current Psychiatry Reports
34. Efficient Prioritization of Multiple Causal eQTL Variants via Sparse Polygenic Modeling
    Naoki Nariai, William W. Young Greenwald, Christopher DeBoever, He Li, Kelly A. Frazer · 2017 · Genetics
35. Accurate and sensitive single-cell-level detection of copy number variations by micro-channel multiple displacement amplification (μcMDA)
    Junji Li, Na Lü, Yuhan Tao, Mengqin Duan, Yi Qiao, Yuming Xu, Qinyu Ge, Changwei Bi, Jiye Fu, Jing Tu et al. · 2018 · Nanoscale
36. Profiling copy number variation and disease associations from 50,726 DiscovEHR Study exomes
    Evan K. Maxwell, Jonathan S. Packer, Colm T. O’Dushlaine, Shane McCarthy, Abby E. Hare-Harris, Jeffrey C. Staples, Claudia G. Gonzaga-Jauregui, Samantha N. Fetterolf, W. Andrew Faucett, Joseph B. Leader et al. · 2017 · bioRxiv (Cold Spring Harbor Laboratory)
37. Accurate prediction of quantitative traits with failed SNP calls in canola and maize
    Sven Ernst Weber, Harmeet Singh Chawla, Lennard Roscher-Ehrig, Lee Thomas Hickey, Matthias Frisch, Rod John Snowdon · 2023 · Frontiers in Plant Science
38. CSV-Filter: a deep learning-based comprehensive structural variant filtering method for both short and long reads
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39. STICI: Split-Transformer with integrated convolutions for genotype imputation
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40. High performance imputation of structural and single nucleotide variants using low-coverage whole genome sequencing
    Manu Kumar Gundappa, Diego Robledo, Alastair Hamilton, Ross D. Houston, James G. D. Prendergast, Daniel J. Macqueen · 2025 · Genetics Selection Evolution
41. Mutations of short tandem repeats explain abundant trait heritability in Arabidopsis
    Zhiqin Zhang, Juan Jiang, Yong‐Chao Xu, Craig Dent, Sridevi Sureshkumar, Sureshkumar Balasubramanian, Ya‐Long Guo · 2025 · Genome biology
42. Multiplatform discovery and regulatory function analysis of structural variations in non-small cell lung carcinoma
    Xia Lin, Zhoufeng Wang, Xinyue Wu, Tianfu Zeng, Wenxin Luo, Xinlei Hu, Yinyun Ni, Guowei Che, Lunxu Liu, Wei jin Zhang et al. · 2021 · Cell Reports
43. Initial Analysis of Structural Variation Detections in Cattle Using Long-Read Sequencing Methods
    Yahui Gao, Li Ma, George E. Liu · 2022 · Genes
44. PGG.SV: a whole-genome-sequencing-based structural variant resource and data analysis platform
    Yimin Wang, Yunchao Ling, Jiao Gong, Xiaohan Zhao, Hanwen Zhou, Bo Xie, Haiyi Lou, Xinhao Zhuang, Jin Li, The Han100K Initiative et al. · 2022 · Nucleic Acids Research
45. Retrotransposon insertions associated with risk of neurologic and psychiatric diseases
    Hyo Won Ahn, Zelia Worman, Arianna Lechsinska, Lindsay M. Payer, Tongguang Wang, Nasir Malik, Wenxue Li, Kathleen H. Burns, Avindra Nath, Henry L. Levin · 2022 · EMBO Reports
46. Mapping of susceptible variants for cold medicine-related Stevens–Johnson syndrome by whole-genome resequencing
    Yosuke Kawai, Yuki Hitomi, Mayumi Ueta, Seik‐Soon Khor, Ken Nakatani, Chie Sotozono, Shigeru Kinoshita, Masao Nagasaki, Katsushi Tokunaga · 2021 · npj Genomic Medicine
47. Automatic detection of complex structural genome variation across world populations
    Bo Zhou, Joseph G. Arthur, Hanmin Guo, Chris Hughes, Taeyoung Kim, Yi‐Ling Huang, Reenal Pattni, HoJoon Lee, Hanlee P. Ji, Giltae Song et al. · 2017 · bioRxiv (Cold Spring Harbor Laboratory)
48. Comparative Genomic Analysis Identifies Great–Ape–Specific Structural Variants and Their Evolutionary Relevance
    Bin Zhou, Yaoxi He, Yongjie Chen, Bing Su · 2023 · Molecular Biology and Evolution
49. GPAD: a natural language processing-based application to extract the gene-disease association discovery information from OMIM
    K. M. Tahsin Hassan Rahit, Vladimir Avramović, Jessica X. Chong, Maja Tarailo‐Graovac · 2024 · BMC Bioinformatics
50. Genomic Insights Into the Origin, Decline and Recovery of the Once Critically Endangered Iberian Lynx
    José A. Godoy, Enrico Bazzicalupo, Mireia Casas‐Marce, Fernando Cruz, Jesús Fernández, Malin Hasselgren, Daniel Kleinman‐Ruiz, Lorena Lorenzo‐Fernández, María Lucena-Pérez, Elena Marmesat et al. · 2025 · Molecular Ecology
51. Recent Insights Into the Evolutionary Genomics of the Critically Endangered Aye‐Aye ( Daubentonia madagascariensis )
    Vivak Soni, Susanne P. Pfeifer, Jeffrey D. Jensen · 2025 · American Journal of Primatology
52. The 1000 Chinese Pangenome empowers medical and population genetics
    Yifei Wang, Zhongqu Duan, Dan Chen, Dandan Shi, Yi Ding, Zhibin Wang, Baoqing Li, Zhiyi Wang, Minmin Guo, Wen Yang et al. · 2026 · Nature
53. Whole-genome and Epigenomic Landscapes of Malignant Gastrointestinal Stromal Tumors Harboring KIT Exon 11 557–558 Deletion Mutations
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54. muCNV: genotyping structural variants for population-level sequencing
    Goo Jun, Fritz Joachim Sedlazeck, Qihui Zhu, Adam C. English, Ginger Metcalf, Hyun Min Kang, Charles Lee, Richard A. Gibbs, Eric Boerwinkle · 2021 · Bioinformatics
55. Multi-tissue integrative analysis of personal epigenomes
    Joel S. Rozowsky, Jörg Drenkow, Yucheng Yang, Gamze Gürsoy, Timur R. Galeev, Beatrice Borsari, Charles B. Epstein, Kun Xiong, Jinrui Xu, Jiahao Gao et al. · 2021 · CaltechAUTHORS (California Institute of Technology)
56. Mobile elements in human population-specific genome and phenotype divergence
    Shohei Kojima, Satoshi Koyama, Mirei Ka, Yuka Saito, Erica H. Parrish, Mikiko Endo, Sadaaki Takata, Misaki Mizukoshi, Keiko Hikino, Atsushi Takeda et al. · 2022 · bioRxiv (Cold Spring Harbor Laboratory)
57. Landscape of genomic structural variations in Indian population-based cohorts: Deeper insights into their prevalence and clinical relevance
    Krithika Subramanian, Mehak Chopra, Bratati Kahali · 2024 · Human Genetics and Genomics Advances
58. Structural variants in linkage disequilibrium with GWAS-significant SNPs
    Hao Liang, Joni C Sedillo, Steven J. Schrodi, Akihiro Ikeda · 2024 · Heliyon
59. Applications of Optical Genome Mapping in Next-Generation Cytogenetics and Genomics
    Wahab A. Khan, Diana M. Toledo · 2021 · Advances in Molecular Pathology
60. Structural Variation Evolution at the 15q11-q13 Disease-Associated Locus
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61. Exploring SVA Insertion Polymorphisms in Shaping Differential Gene Expressions in the Central Nervous System
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64. Ultrafast prediction of somatic structural variations by filtering out reads matched to pan-genome k-mer sets
    Jang-il Sohn, Min-Hak Choi, Dohun Yi, A Vipin Menon, Yeon Jeong Kim, Junehawk Lee, Jung Woo Park, Sungkyu Kyung, Seung‐Ho Shin, Byunggook Na et al. · 2022 · Nature Biomedical Engineering
65. Disentangling the complexity of psoriasis in the post-genome-wide association era
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66. ORE identifies extreme expression effects enriched for rare variants
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67. Structural variation in complex genome: detection, integration and function
    Ning Yang, Shenshen Wu, Jianbing Yan · 2019 · Science China Life Sciences
68. A strategy for building and using a human reference pangenome
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69. Functional annotation of rare structural variation in the human brain
    Lide Han, Xuefang Zhao, Mary Lauren Benton, Thanneer Malai Perumal, Ryan L. Collins, Gabriel E. Hoffman, Jessica Johnson, Laura Gail Sloofman, Harold Z. Wang, Kristen Brennand et al. · 2019 · bioRxiv (Cold Spring Harbor Laboratory)
70. The EN-TEx resource of multi-tissue personal epigenomes & variant-impact models
    J. Rozowsky, Jia-Hao Gao, Beatrice Borsari, Yucheng T. Yang, Timur R. Galeev, Gamze Gursoy, C. Epstein, Kun Xiong, Jin-Rui Xu, Tian-Xiao Li et al. · 2022 · bioRxiv
71. Haplotype‐resolved genome and pan‐genome graphs reveal the impacts of structural variation on functional genome and feather colors in chickens
    Lihong Gu, Peng Chen, Anhong Chen, Kaiyu Chen, Xinli Zheng, Dongyou Yu, Zhengguang Wang, Lingzhao Fang, George E. Liu, Pengju Zhao · 2025 · iMetaOmics.
72. How Structural Variations Influence Crop Improvement
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74. Phenome-wide analysis of copy number variants in 470,727 UK Biobank genomes
    Xueqing Zoe Zou, Fengyuan Hu, Haiyi Lou, Oliver S. Burren, Xiaoyin Li, Karyn Mégy, Eleanor Wheeler, Qiang Wu, Santosh S. Atanur, Marcin Karpiński et al. · 2026 · Nature
75. Germline structural variation globally impacts the cancer transcriptome including disease-relevant genes
    Fengju Chen, Yiqun Zhang, Fritz Joachim Sedlazeck, Chad J. Creighton · 2024 · Cell Reports Medicine
76. Defence and nutrition synergistically contribute to the distinct tolerance of rice subspecies to the stem borer, Chilo suppressalis
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77. The Landscape of Presence/Absence Variations during the Improvement of Rice
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78. The big challenge for livestock genomics is to make sequence data pay
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79. A comprehensive lettuce variation map reveals the impact of structural variations in agronomic traits
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80. Characterization of intermediate-sized insertions using whole-genome sequencing data and analysis of their functional impact on gene expression
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81. PanSVR: Pan-Genome Augmented Short Read Realignment for Sensitive Detection of Structural Variations
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82. Retrotransposon Insertion Polymorphisms (RIPs) in Pig Coat Color Candidate Genes
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83. Multiethnic catalog of structural variants and their translational impact for disease phenotypes across 19,652 genomes
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84. Quantifying the regulatory potential of genetic variants via a hybrid sequence-oriented model with SVEN
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85. SVhawkeye: an ultra-fast software for user-friendly visualization of targeted structural fragments from BAM files
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86. Prospects for personalization of depression treatment with genome sequencing
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87. First interchromosomal insertion in a patient with cerebral and spinal cavernous malformations
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88. Short structural variants as informative genetic markers for ALS disease risk and progression
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89. Spatial Chromatin Architecture Alteration by Structural Variations in Human Genomes at Population Scale
    Michał Sadowski, Agnieszka Kraft, Przemysław Szałaj, Michał Wlasnowolski, Zhonghui Tang, Yijun Ruan, Dariusz Plewczyński · 2018 · bioRxiv (Cold Spring Harbor Laboratory)
90. The role of genomic vs. epigenomic variation in shaping patterns of convergent transcriptomic variation across continents in a young species complex
    Clément Rougeux, Martin Laporte, Pierre‐Alexandre Gagnaire, Louis Bernatchez · 2019 · bioRxiv (Cold Spring Harbor Laboratory)
91. Split-Transformer Impute (STI): A Transformer Framework for Genotype Imputation
    Mohammad Erfan Mowlaei, Chong Li, Oveis Jamialahmadi, Raquel Dias, Junjie Chen, Benyamin Jamialahmadi, Timothy Richard Rebbeck, Vincenzo Carnevale, Sudhir Kumar, Xinghua Mindy Shi · 2023 · bioRxiv (Cold Spring Harbor Laboratory)
92. Super Pangenome of Grapevines Empowers Improvement of the Oldest Domesticated Fruit
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93. Pooled, Long-read Sequencing for Structural Variant Characterization in Schistosome Populations
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94. A structural variant of Voltage‐Dependent Anion Channel 1/3a confers cold tolerance in Solanum habrochaites
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95. Molecular QTL are enriched for structural variants in a cattle long-read cohort
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96. Large Fragment InDels Reshape Genome Structure of Porcine Alveolar Macrophage 3D4/21 Cells
    Xiaolong Li, Xiaoqian Zhang, Yandong Luo, Ru Liu, Yan Sun, Shuhong Zhao, Mei Yu, Jianhua Cao · 2022 · Genes
97. Long-read genome assemblies reveal a cis-regulatory landscape associated with phenotypic divergence in two sister Siniperca fish species
    Guangxian Tu, 中山大学海洋科学学院有害生物控制与资源利用国家重点实验室(中山大学), 广东 珠海 519000, 中国, Xinshuang Zhang, Ruirun Jiang, Long Zhang, Cheng-Jun Lai, Zhuyue Yan, Yan-Rong Lv, Shaoping Weng, Li Zhang et al. · 2023 · 动物学研究
98. Misexpression of inactive genes in whole blood is associated with nearby rare structural variants
    Thomas Vanderstichele, Katie L. Burnham, Niek de Klein, Manuel Tardáguila, Brittany Howell, Klaudia Walter, Kousik Kundu, Jonas Koeppel, Wanseon Lee, Alex Tokolyi et al. · 2024 · The American Journal of Human Genetics
99. An Interrogation of Shared and Unique Copy Number Variants Across Genetically Distinct Zebrafish Strains
    Lindsay A. Holden, Charles Wilson, Zachary Heineman, Kimberly P. Dobrinski, Kim H. Brown · 2018 · Zebrafish
100. The relationship between chimeric RNAs and gene fusions: Potential implications of reciprocity in cancer
     Justin Elfman, Lam-Phong Pham, Hui Li · 2020 · Journal of genetics and genomics/Journal of Genetics and Genomics