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  1. Article

    Open Access

    SETDB1 regulates short interspersed nuclear elements and chromatin loop organization in mouse neural precursor cells

    Transposable elements play a critical role in maintaining genome architecture during neurodevelopment. Short Interspersed Nuclear Elements (SINEs), a major subtype of transposable elements, are known to harbor...

    Dai**g Sun, Yueyan Zhu, Wenzhu Peng, Shenghui Zheng, Jie Weng in Genome Biology (2024)

  2. No Access

    Article

    Dual-trait genomic analysis in highly stratified Arabidopsis thaliana populations using genome-wide association summary statistics

    Genome-wide association study (GWAS) is a powerful tool to identify genomic loci underlying complex traits. However, the application in natural populations comes with challenges, especially power loss due to p...

    **ao Feng, Yanjun Zan, Ting Li, Yue Yao, Zheng Ning, Jiabei Li, Hadi Charati in Heredity (2024)

  3. Article

    Open Access

    Benchmarking computational variant effect predictors by their ability to infer human traits

    Computational variant effect predictors offer a scalable and increasingly reliable means of interpreting human genetic variation, but concerns of circularity and bias have limited previous methods for evaluati...

    Daniel R. Tabet, Da Kuang, Megan C. Lancaster, Roujia Li, Karen Liu in Genome Biology (2024)

  4. Article

    Open Access

    A feedback loop driven by H3K9 lactylation and HDAC2 in endothelial cells regulates VEGF-induced angiogenesis

    Vascular endothelial growth factor (VEGF) is one of the most powerful proangiogenic factors and plays an important role in multiple diseases. Increased glycolytic rates and lactate accumulation are associated ...

    Wei Fan, Shuhao Zeng, **aotang Wang, Guoqing Wang, Dan Liao, Ruonan Li in Genome Biology (2024)

  5. Article

    Open Access

    Evaluation of somatic copy number variation detection by NGS technologies and bioinformatics tools on a hyper-diploid cancer genome

    Copy number variation (CNV) is a key genetic characteristic for cancer diagnostics and can be used as a biomarker for the selection of therapeutic treatments. Using data sets established in our previous study,...

    Daniall Masood, Luyao Ren, Cu Nguyen, Francesco G. Brundu, Lily Zheng in Genome Biology (2024)

  6. Article

    Open Access

    DNA methylation variations underlie lettuce domestication and divergence

    Lettuce (Lactuca sativa L.) is an economically important vegetable crop worldwide. Lettuce is believed to be domesticated from a single wild ancestor Lactuca serriola and subsequently diverged into two major morp...

    Shuai Cao, Nunchanoke Sawettalake, ** Li, Sheng Fan, Lisha Shen in Genome Biology (2024)

  7. Article

    Open Access

    LABS: linear amplification-based bisulfite sequencing for ultrasensitive cancer detection from cell-free DNA

    Methylation-based liquid biopsies show promises in detecting cancer using circulating cell-free DNA; however, current limitations impede clinical application. Most assays necessitate substantial DNA inputs, po...

    **ao-Long Cui, Ji Nie, Houxiang Zhu, Krissana Kowitwanich in Genome Biology (2024)

  8. Article

    Open Access

    TMO-Net: an explainable pretrained multi-omics model for multi-task learning in oncology

    Cancer is a complex disease composing systemic alterations in multiple scales. In this study, we develop the Tumor Multi-Omics pre-trained Network (TMO-Net) that integrates multi-omics pan-cancer datasets for ...

    Feng-ao Wang, Zhenfeng Zhuang, Feng Gao, Ruikun He, Shaoting Zhang in Genome Biology (2024)

  9. Article

    Open Access

    iIMPACT: integrating image and molecular profiles for spatial transcriptomics analysis

    Current clustering analysis of spatial transcriptomics data primarily relies on molecular information and fails to fully exploit the morphological features present in histology images, leading to compromised a...

    ** Jiang, Shidan Wang, Lei Guo, Bencong Zhu, Zhuoyu Wen, Liwei Jia in Genome Biology (2024)

  10. Article

    Open Access

    Structural variant landscapes reveal convergent signatures of evolution in sheep and goats

    Sheep and goats have undergone domestication and improvement to produce similar phenotypes, which have been greatly impacted by structural variants (SVs). Here, we report a high-quality chromosome-level refere...

    Ji Yang, Dong-Feng Wang, Jia-Hui Huang, Qiang-Hui Zhu, Ling-Yun Luo in Genome Biology (2024)

  11. Article

    Open Access

    Systematic evaluation with practical guidelines for single-cell and spatially resolved transcriptomics data simulation under multiple scenarios

    Single-cell RNA sequencing (scRNA-seq) and spatially resolved transcriptomics (SRT) have led to groundbreaking advancements in life sciences. To develop bioinformatics tools for scRNA-seq and SRT data and perf...

    Hongrui Duo, Yinghong Li, Yang Lan, **gxin Tao, Qingxia Yang in Genome Biology (2024)

  12. Article

    Open Access

    scCDC: a computational method for gene-specific contamination detection and correction in single-cell and single-nucleus RNA-seq data

    In droplet-based single-cell and single-nucleus RNA-seq assays, systematic contamination of ambient RNA molecules biases the quantification of gene expression levels. Existing methods correct the contamination...

    Weijian Wang, Yihui Cen, Zezhen Lu, Yueqing Xu, Tianyi Sun, Ying **ao in Genome Biology (2024)

  13. Article

    Open Access

    In vivo rescue of genetic dilated cardiomyopathy by systemic delivery of nexilin

    Dilated cardiomyopathy (DCM) is one of the most common causes of heart failure. Multiple identified mutations in nexilin (NEXN) have been suggested to be linked with severe DCM. However, the exact association ...

    Yanjiao Shao, Canzhao Liu, Hsin-Kai Liao, Ran Zhang, Baolei Yuan in Genome Biology (2024)

  14. Article

    Open Access

    Conditional knockdown of OsMLH1 to improve plant prime editing systems without disturbing fertility in rice

    High-efficiency prime editing (PE) is desirable for precise genome manipulation. The activity of mammalian PE systems can be largely improved by inhibiting DNA mismatch repair by coexpressing a dominant-negati...

    **aoshuang Liu, Dongfang Gu, Yiru Zhang, Yingli Jiang, Zhi **ao in Genome Biology (2024)

  15. Article

    Open Access

    SCIPAC: quantitative estimation of cell-phenotype associations

    Numerous algorithms have been proposed to identify cell types in single-cell RNA sequencing data, yet a fundamental problem remains: determining associations between cells and phenotypes such as cancer. We dev...

    Dailin Gan, Yini Zhu, **n Lu, Jun Li in Genome Biology (2024)

  16. Article

    Open Access

    Single-cell 3D genome structure reveals distinct human pluripotent states

    Pluripotent states of embryonic stem cells (ESCs) with distinct transcriptional profiles affect ESC differentiative capacity and therapeutic potential. Although single-cell RNA sequencing has revealed addition...

    Niannian Li, Kairang **, Bin Liu, Mingzhu Yang, PanPan Shi, Dai Heng in Genome Biology (2024)

  17. Article

    Open Access

    Map** and functional characterization of structural variation in 1060 pig genomes

    Structural variations (SVs) have significant impacts on complex phenotypes by rearranging large amounts of DNA sequence.

    Liu Yang, Hongwei Yin, Li**g Bai, Wenye Yao, Tan Tao, Qianyi Zhao in Genome Biology (2024)

  18. Article

    Open Access

    Disruption of maternal vascular remodeling by a fetal endoretrovirus-derived gene in preeclampsia

    Preeclampsia, one of the most lethal pregnancy-related diseases, is associated with the disruption of uterine spiral artery remodeling during placentation. However, the early molecular events leading to preecl...

    **aoli Gong, Wei He, Wan **, Hongwei Ma, Gang Wang, Jiaxin Li, Yu **ao in Genome Biology (2024)

  19. No Access

    Article

    Hybrids of two destructive subterranean termites established in the field, revealing a potential for gene flow between species

    Hybridization between invasive pest species may lead to significant genetic and economic impacts that require close monitoring. The two most invasive and destructive termite species worldwide, Coptotermes formosa...

    Guan-Yu Chen, Shih-Ying Huang, Ming-Der Lin, Thomas Chouvenc, Yung-Hao Ching in Heredity (2024)

  20. Article

    Open Access

    NextDenovo: an efficient error correction and accurate assembly tool for noisy long reads

    Long-read sequencing data, particularly those derived from the Oxford Nanopore sequencing platform, tend to exhibit high error rates. Here, we present NextDenovo, an efficient error correction and assembly too...

    Jiang Hu, Zhuo Wang, Zongyi Sun, Benxia Hu, Adeola Oluwakemi Ayoola in Genome Biology (2024)

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