The impact of structural variation on human gene expression

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Items 301–400 of 519

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2. Is an SV caller compatible with sequencing data? An online recommendation tool to automatically recommend the optimal caller based on data features
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3. Third-generation genome sequencing implicates medium-sized structural variants in chronic schizophrenia
   Chi Chiu Lee, Rui Ye, Justin D. Tubbs, Larry Baum, Yuanxin Zhong, Shuk Yan Joey Leung, Sheung Chun Chan, Kit Wu, Po Kwan Jamie Cheng, Lai Ping Chow et al. · 2023 · Frontiers in Neuroscience
4. The Complex Landscape of Structural Divergence Between the Drosophila pseudoobscura and D. persimilis Genomes
   Javier Carpinteyro-Ponce, Carlos A. Machado · 2024 · Genome Biology and Evolution
5. Discovery and Quality Analysis of a Comprehensive Set of Structural Variants and Short Tandem Repeats
   David A. Jakubosky, Erin N. Smith, Matteo D’Antonio, Marc Jan Bonder, William W. Young Greenwald, Agnieszka D’Antonio‐Chronowska, Hiroko Matsui, Oliver Stegle, Stephen B. Montgomery, Christopher DeBoever et al. · 2019 · bioRxiv (Cold Spring Harbor Laboratory)
6. Revealing the impact of recurrent and rare structural variants in multiple myeloma
   Even Holth Rustad, Venkata D. Yellapantula, Dominik Głodzik, Kylee H. Maclachlan, Benjamin T. Diamond, Eileen Mary Boyle, Cody Ashby, Patrick Blaney, Gunes Gundem, Malin L. Hultcrantz et al. · 2019 · bioRxiv (Cold Spring Harbor Laboratory)
7. Microbial contaminants cataloged as novel human sequences in recent human pan-genomes
   Mosè Manni, Evgeny M. Zdobnov · 2020 · bioRxiv (Cold Spring Harbor Laboratory)
8. Expectations and blind spots for structural variation detection from short-read alignment and long-read assembly
   Xuefang Zhao, Ryan L. Collins, Wan-Ping Lee, Alexandra M. Weber, Yukyung Jun, Qihui Zhu, Ben Weisburd, Yongqing Huang, Peter A. Audano, Harold Wang et al. · 2020 · bioRxiv (Cold Spring Harbor Laboratory)
9. Biological insights from the whole genome analysis of human embryonic stem cells
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10. Whole genome sequencing identifies common and rare structural variants contributing to hematologic traits in the NHLBI TOPMed program
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11. Imputation of structural variants using a multi-ancestry long-read sequencing panel enables identification of disease associations
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12. An ancient regulatory variant of ACSF3 influences the coevolution of increased human height and basal metabolic rate via metabolic homeostasis
    Yufeng Zhang, Jie Wang, Chuanyou Yi, Yue Su, Zi Chao Yin, Shuxian Zhang, Jin Li, Mark Stoneking, Jian Yang, Ke Wang et al. · 2025 · Cell Genomics
13. A 725-bp quadruple repeat in the promoter of SmMYB113 is associated with light-independent anthocyanin regulation in eggplant
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14. Pangenomic analyses of rose uncover widespread structure variation and empower genomics-directed breeding
    Xiaoni Zhang, Lan Lan, Yingxue Yang, Huilin Guan, Dan Peng, Heling Jiang, Quanshu Wu, Rui Huang, Xuezhu Liao, Shengnan Lin et al. · 2026 · Nature Genetics
15. Regulatory Effects of 198-bp Structural Variants in the GSTA2 Promoter Region on Adipogenesis in Chickens
    Wangyu Li, Meng Xu, Zihao Zhang, Jiaying Liang, Rong Fu, Wujian Lin, Wen Luo, Xiquan Zhang, Tuanhui Ren · 2024 · International Journal of Molecular Sciences
16. Structural variations in oil crops: Types, and roles on domestication and breeding
    Xiaobo Cui, Miao Yao, Meili Xie, Ming Hu, Shengyi Liu, Lìjiāng Liú, Chaobo Tong · 2024 · Oil Crop Science
17. CanSeer: a translational methodology for developing personalized cancer models and therapeutics
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18. SVsearcher: A more accurate structural variation detection method in long read data
    yan zheng, Xuequn Shang, Wing-Kin Ken Sung · 2023 · Computers in Biology and Medicine
19. SVvalidation: A long-read-based validation method for genomic structural variation
    yan zheng, Xuequn Shang · 2024 · PLoS ONE
20. Discovery of a polymorphic gene fusion via bottom-up chimeric RNA prediction
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21. Cross-ancestry and sex-stratified genome-wide association analyses of amygdala and subnucleus volumes
    Yuan Ji, Na-Na Liu, Yun-Jun Yang, Mei-Yun Wang, Jingliang Cheng, Wen-Zhen Zhu, Shi-Jun Qiu, Zuo-Jun Geng, Guangbin Cui, Yong-Qiang Yu et al. · 2025 · Nature Genetics
22. Global DNA methylation differences involving germline structural variation impact gene expression in pediatric brain tumors
    Fengju Chen, Yiqun Zhang, Wei Li, Fritz Joachim Sedlazeck, Lanlan Shen, Chad J. Creighton · 2025 · Nature Communications
23. A graph clustering algorithm for detection and genotyping of structural variants from long reads
    Nicolás Gaitán, Jorge Duitama · 2023 · GigaScience
24. Multi-tissue analysis reveals short tandem repeats as ubiquitous regulators of gene expression and complex traits
    Stephanie Feudjio Feupe, Jonathan Margoliash, Catherine Wang, Shubham Saini, Richard Yanicky, Sharona Shleizer-Burko, Alon Goren, Melissa Gymrek · 2018 · bioRxiv (Cold Spring Harbor Laboratory)
25. Large-scale trans-ethnic replication and discovery of genetic associations for rare diseases with self-reported medical data
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26. CADD-SV – a framework to score the effects of structural variants in health and disease
    Philip Kleinert, Martin Kircher · 2021 · bioRxiv (Cold Spring Harbor Laboratory)
27. A pangenome graph reference of 30 chicken genomes allows genotyping of large and complex structural variants
    Edward S. Rice, Antton Alberdi, James M. Alfieri, Giridhar Athrey, Jennifer Balacco, Philippe Bardou, Heath Blackmon, Mathieu Charles, Hans H. Cheng, Olivier D. Fedrigo et al. · 2023 · Research Square
28. Structural variant landscape provides insights into genome organisation and domestication in European seabass
    Zexin Jiao, Robert Mukiibi, Manu Kumar Gundappa, Massimiliano Babbucci, James G. D. Prendergast, Diego Robledo, Luca Bargelloni, Daniel J. Macqueen · 2025 · BMC Biology
29. Pan‐3D Genome Analysis Reveals the Roles of Structural Variation in Chicken Chromatin Architectures, Domestication and Production Traits
    Zhen Zhou, Danfeng Cai, Changbin Zhao, Siyu Zhang, Jiahao Li, Zhaofeng Zhang, Shaofen Kong, Xin Yang, Xiaoli Zhou, Farhad Bordbar et al. · 2026 · Advanced Science
30. Structural variation in context: mechanisms, functions and selection regimes across the tree of life
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31. Benchmarking of structural variant detection in the tetraploid potato genome using linked-read sequencing
    Marius Weisweiler, Benjamin Stich · 2023 · Genomics
32. Optical genome mapping reveals novel structural variations in an autism spectrum disorder cohort
    Yunjia Zhang, Wai Tong Chien, Judy Yuet‐Wa Chan, Tsz‐Yan Cheung, Zhiqian He, Kai-Hang Yip, Dorothy Fung-Ying Chan, Josephine S. C. Chong, Mary Miu Yee Waye, Sek Ying Chair et al. · 2025 · Computational and Structural Biotechnology Journal
33. Role of expression quantitative trait loci (eQTL) in understanding genetic mechanisms underlying common complex diseases
    Sung Eun Hong, Murim Choi, Jeongha Lee · 2025 · Molecules and Cells
34. Genomic insights into the divergence between hulled and hulless oats
    Wei Li, Jianan Liu, Ningkun Liu, Hanfei Liang, Lijun Zhang, Qingbin Sun, Yan Wei, Minghao Li, Xingyu Liu, Yange Yun et al. · 2025 · Cell Reports
35. GWAS SVatalog: a visualization tool to aid fine-mapping of GWAS loci with structural variations
    Shalvi Chirmade, Zhuozhi Wang, Scott Mastromatteo, Eric Sanders, Bhooma Thiruvahindrapuram, Thomas Nalpathamkalam, Giovanna Pellecchia, Lin Fan, Katherine Keenan, Rohan V. Patel et al. · 2025 · Heredity
36. A simple method to efficiently generate structural variation in plants
    Lindsey L. Bechen, Naiyara Ahsan, Alefiyah Bahrainwala, Mary A. Gehring, Prasad R. V. Satyaki · 2025 · PLoS Genetics
37. Genomic properties of structural variants and short tandem repeats that impact gene expression and complex traits in humans
    David A. Jakubosky, Matteo D’Antonio, Marc Jan Bonder, Craig Smail, Margaret K. R. Donovan, William W. Young Greenwald, Agnieszka D’Antonio‐Chronowska, Hiroko Matsui, Oliver Stegle, Erin N. Smith et al. · 2019 · bioRxiv (Cold Spring Harbor Laboratory)
38. A Strategy of Assessing Gene Copy Number Differentiation Between Populations Using Ultra‐Fast De Novo Assembly of Next‐Generation Sequencing Data
    Tao Shi, Zhiyan Gao, Yue Zhang, Mark D. Rausher, Jinming Chen · 2025 · Molecular Ecology Resources
39. Germline structural variations involving the pediatric brain tumor transcriptome include disease-relevant and ancestry-related genes
    Fengju Chen, Yiqun Zhang, Luis F. Paulin, Fritz Joachim Sedlazeck, Chad J. Creighton · 2025 · Acta Neuropathologica Communications
40. LAYLA: development of a comprehensive and cross-sample program for detecting structural variants and its application to citrus cultivars
    Tomoaki Watanabe, Tomoko Endo, Yoshihiro Kawahara, Kenta Shirasawa, Keisuke Nonaka, Sachiko Isobe, Takehiko Shimada, Shingo Goto, Hiroshi Fujii · 2025 · Ikushugaku zasshi
41. The value of structural variants to conservation genomics in the pangenome era
    Teresa M. Pegan, Ashwin Sivakumar, Christian A Burns, Kelsie A. Lopez, Bohao Fang, Nicole M Melendez, Lauren Bartel, Scott V. Edwards · 2025 · Journal of Heredity
42. Transposable element-associated structural variants and gene expression patterns in the hybrid of Megalobrama amblycephala♀ × Culter alburnus♂
    Songlin Cai, Mohamed H. Abo‐Raya, Yi Zhou, Xiaowen Chen, Jun Wang, Chenghui Wang · 2026 · Aquaculture
43. Genomic insights into chromosomal fusion and its evolutionary implications for zokors
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44. Pangenome variation analysis uncovers the impacts of SNP‐independent structural variations in modern European cattle breeding
    Shoulu Dai, Linjing Xu, Liu Yang, Pengju Zhao, Xin Li, Wei Huang, Wengang Zhang, Xuelei Dai, Zhiqiang Li, Lingwei Peng et al. · 2026 · iMetaOmics.
45. Global impact of germline structural variation on the cancer proteome
    Fengju Chen, Yiqun Zhang, Luis F. Paulin, Darshan Shimoga Chandrashekar, Sooryanarayana Varambally, Fritz Joachim Sedlazeck, Chad J. Creighton · 2026 · Nature Communications
46. Impact of Rare Structural Variant Events in Newly Diagnosed Multiple Myeloma
    Monika Chojnacka, Benjamin T. Diamond, Bachisio Ziccheddu, Even Holth Rustad, Kylee H. Maclachlan, Marios Papadimitriou, Eileen Mary Boyle, Patrick Blaney, Saad Z. Usmani, Gareth John Morgan et al. · 2023 · Clinical Cancer Research
47. Genomic landscape and functional characterization of structural variations in schizophrenia and bipolar disorder
    Yong Wu, Chuyi Zhang, Yue Zhang, Rui Chen, Lu Wang, Hong Chang, Ming Li, Xiao Xiao, S. L. Li · 2024 · Psychiatry Research
48. Investigating mobile element variations by statistical genetics
    Shohei Kojima · 2024 · Human Genome Variation
49. Prioritizing disease-related rare variants by integrating gene expression data
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50. Multi-omics integration analysis reveals the regulatory impact of CNVs for slaughter traits in cattle
    Jiayuan Wu, Qunhao Niu, Tianyi Wu, Yingxiao Su, Feng Liu, Zhida Zhao, Huijiang Gao, Junya Li, Lingyang Xu · 2025 · International Journal of Biological Macromolecules
51. The Great Genotyper: a graph-based method for population genotyping of small and structural variants
    Moustafa Shokrof, Mohamed Abuelanin, C. Titus Brown, Tamer A. Mansour · 2025 · GigaScience
52. SVPG: a pangenome-based structural variant detection approach and rapid augmentation of pangenome graphs with new samples
    Tao Jiang, Heng Kang Hu, Runtian Gao, Shuqi Cao, Zhongjun Jiang, Murong Zhou, Wentao Gao, Shengming Zhou, Guohua Wang · 2026 · Nature Methods
53. The price of sequencing the livestock genomics
    Marcin Pszczoła · 2023 · Peer Community In Animal Science
54. Dysfunctional DNA repair pathway via defective FANCD2 gene engenders multifarious exomic and transcriptomic effects in Fanconi anemia
    Karthik Raja Velmurugan, Pawel Michalak, Lin Kang, Natalie C. Fonville, Harold R. Garner · 2018 · Molecular Genetics & Genomic Medicine
55. Thousands of human sequences provide deep insight into single genomes
    Deanna M. Church · 2020 · Nature
56. Compartmap enables inference of higher-order chromatin structure in individual cells from scRNA-seq and scATAC-seq
    Benjamin K. Johnson, Jean‐Philippe Fortin, Kasper D. Hansen, Hui Shen, Timothy J. Triche · 2021 · bioRxiv (Cold Spring Harbor Laboratory)
57. Genome-wide analysis of Structural Variants in Parkinson’s Disease using Short-Read Sequencing data
    Kimberley J. Billingsley, Jinhui Ding, Pilar Álvarez Jerez, Anastasia Illarionova, Francis P. Grenn, Mary B. Makarious, Anni K. Moore, Dan Vitale, Xylena Reed, Dena G. Hernandez et al. · 2022 · bioRxiv (Cold Spring Harbor Laboratory)
58. Duck pan-genome reveals two transposon-derived structural variations caused bodyweight enlarging and white plumage phenotype formation during evolution
    Kejun Wang, Guoying Hua, Jingyi Li, Yang Yu, Chenxi Zhang, Lan Yang, Xiaoyu Hu, Armin Scheben, Yanan Wu, Ping Gong et al. · 2023 · bioRxiv (Cold Spring Harbor Laboratory)
59. Hidden protein-altering variants influence diverse human phenotypes
    Margaux L.A. Hujoel, Robert E. Handsaker, Maxwell A. Sherman, Nolan Kamitaki, Alison R. Barton, Ronen E. Mukamel, Chikashi C. Terao, Steven A. McCarroll, Po‐Ru Loh · 2023 · bioRxiv (Cold Spring Harbor Laboratory)
60. Haplotype differences in common bean accessions confer the capacity to flower under Scandinavian summer conditions
    Martha Rendón‐Anaya, G Buinovskaja, Ling Mei Yu, Pär K. Ingvarsson · 2023 · bioRxiv (Cold Spring Harbor Laboratory)
61. A Genomic Language Model for Zero-Shot Prediction of Promoter Variant Effects
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62. End-to-end proteogenomics for discovery of cryptic and non-canonical cancer proteoforms using long-read transcriptomics and multi-dimensional proteomics
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63. HapKled: a haplotype-aware structural variant calling approach for Oxford nanopore sequencing data
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64. Anomalías cromosómicas y su diagnóstico en patología constitucional
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65. FindCSV: a long-read based method for detecting complex structural variations
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66. High‐resolution genome‐wide association study reveals two genes influencing dietary fiber content in sesame ( Sesamum indicum L.)
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67. Genomic Analysis of Indel and SV Reveals Functional and Adaptive Signatures in Hubei Indigenous Cattle Breeds
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68. The Evolution and expression analysis of USP gene family in Solanum
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69. Genome-wide copy number variation drives adaptive evolution in Macaca mulatta populations
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70. Construction of a Genome-Wide Copy Number Variation Map and Association Analysis of Black Spot in Jujube
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71. CRISPR/Cas9- and Cas3-mediated modification of copy number variation in rice
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72. Dark and camouflaged genomic regions remain challenging in CHM13
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73. Introgressed mitochondrial fragments from archaic hominins alter nuclear genome function in modern humans
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74. cuteHap: Haplotype‐Aware Structural Variant Detection in Phased Long‐Read Sequencing Data
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75. Tissue-specific gene dosage disruption is a key feature and pathogenic mechanism of structural variants in the human genome
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76. Identification of Candidate Genes Associated with the Pileus-Deficient Phenotype in Lentinula edodes Through Comparative Genomic and Transcriptomic Analyses
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77. Integrated Analysis of SNPs and Structural Variations via High-depth Whole-genome Sequencing Reveals the Genetic Architecture and Optimizes Genomic Prediction in Chickens
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78. High-throughput Sequencing to Identify Errors in Deoxyribonucleic Acid Sequences and Chromosomal Abnormalities
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79. Familial thrombocytopenia: The long and short of it
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80. Population Genomics of High-Altitude Adaptation
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81. snakeSV: Flexible Framework for Large-Scale SV Discovery
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82. Optical Genome Mapping Identifies a Novel Unbalanced Translocation Between Chromosomes 4q and 6q Leading to Feeding Difficulties and Hypotonia in a Neonate: A Case Report
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83. Deep Pseudogene Categorization and Genome-Wide Transcription Prediction Using GANP-Based Feature Selection and TabNet Interpretability
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84. Dysregulation of Cis-Regulatory Elements in Cancer
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85. A structural variation genotyping algorithm enhanced by CNV quantitative transfer
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86. Higher-order Chromatin Organization in Diseases, from Chromosomal Position Effect to Phenotype Variegation
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87. Impact of rare structural variant events in newly diagnosed multiple myeloma
    Monika Chojnacka, Benjamin T. Diamond, Bachisio Ziccheddu, Even Holth Rustad, Kylee H. Maclachlan, Marios Papadimitriou, Eileen Mary Boyle, Patrick Blaney, Saad Z. Usmani, Gareth John Morgan et al. · 2023 · bioRxiv (Cold Spring Harbor Laboratory)
88. Predicting molecular events underlying rare diseases using variant annotation, aberrant gene expression events, and human phenotype ontology
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89. Exploring the genetic and epigenetic underpinnings of early-onset cancers: Variant prioritization for long read whole genome sequencing from family cancer pedigrees
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90. Resolving somatic SVs via full-length sequence model-based local graph-genome optimization
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91. Sequencing the gaps: dark genomic regions persist in CHM13 despite long-read advances
    Mark E. Wadsworth, Madeline L. Page, Bernardo Aguzzoli Heberle, Justin B. Miller, Cody J. Steely, Mark Ebbert · 2025 · bioRxiv (Cold Spring Harbor Laboratory)
92. End-to-end proteogenomics for discovery of cryptic and non-canonical cancer proteoforms using long-read transcriptomics and multi-dimensional proteomics
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93. Gene copy number variation (gCNV) contributes to adaptation along environmental gradient
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94. Evaluating the impact of compound heterozygosity involving microdeletions and sequence-level variants: findings in autism
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95. Ancient persistence and recurrent emergence of structural variants across divergent Atlantic salmon lineages
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96. Towards a complete characterization of common human polymorphic inversions and their functional effects
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97. Investigating the Role of Genomic Variation in Susceptibility to Environmental Chemicals across Populations
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98. Variant Interpretation and Genomic Medicine
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99. Molecular Biology of Genetic Variants
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100. Copy Number Variations of SCN5A in Brugada Syndrome
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