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  1. MCKAT: a multi-dimensional copy number variant kernel association test

    Background

    Copy number variants (CNVs) are the gain or loss of DNA segments in the genome. Studies have shown that CNVs are linked to various...

    Nastaran Maus Esfahani, Daniel Catchpoole, ... Paul J. Kennedy in BMC Bioinformatics
    Article Open access 11 December 2021
  2. Determination of Growth Rate and Virulence Plasmid Copy Number During Yersinia pseudotuberculosis Infection Using Droplet Digital PCR

    Pathogenic bacteria have evolved the ability to evade their host defenses and cause diseases. Virulence factors encompass a wide range of adaptations...
    Tifaine Hechard, Helen Wang in Bacterial Pathogenesis
    Protocol 2023
  3. Copy Number Analysis of the Yeast Histone Deacetylase Complex Component Cti6 Directly in Living Cells

    Proteins are one of the key components of cellular life that play a crucial role in most biological processes. Therefore, quantification of protein...
    Sviatlana Shashkova, Thomas Nyström, Mark C. Leake in Chromosome Architecture
    Protocol 2022
  4. Efficient assembly of a synthetic attenuated SARS-CoV-2 genome in Saccharomyces cerevisiae using multi-copy yeast vectors

    Saccharomyces cerevisiae has been demonstrated to be an excellent platform for the multi-fragment assembly of large DNA constructs through its...

    Abhishek Kumar Singh, Harsh Goar, ... Anand Kumar Bachhawat in Journal of Genetics
    Article 01 February 2024
  5. Syndecan-4 affects myogenesis via Rac1-mediated actin remodeling and exhibits copy-number amplification and increased expression in human rhabdomyosarcoma tumors

    Skeletal muscle demonstrates a high degree of regenerative capacity repeating the embryonic myogenic program under strict control. Rhabdomyosarcoma...

    Kitti Szabo, Daniel Varga, ... Aniko Keller-Pinter in Cellular and Molecular Life Sciences
    Article Open access 07 February 2022
  6. A composite strategy of genome-wide association study and copy number variation analysis for carcass traits in a Duroc pig population

    Background

    Carcass traits are important in pig breeding programs for improving pork production. Understanding the genetic variants underlies complex...

    Rongrong Ding, Zhanwei Zhuang, ... Jie Yang in BMC Genomics
    Article Open access 13 August 2022
  7. Author Correction: Engineered promoters enable constant gene expression at any copy number in bacteria

    Thomas H. Segall-Shapiro, Eduardo D. Sontag, Christopher A. Voigt in Nature Biotechnology
    Article 07 April 2022
  8. Integrative single-cell analysis of allele-specific copy number alterations and chromatin accessibility in cancer

    Cancer progression is driven by both somatic copy number aberrations (CNAs) and chromatin remodeling, yet little is known about the interplay between...

    Chi-Yun Wu, Billy T. Lau, ... Nancy R. Zhang in Nature Biotechnology
    Article 20 May 2021
  9. Probing low-copy-number proteins in single living cells using single-cell plasmonic immunosandwich assays

    Cellular heterogeneity is pervasive and of paramount importance in biology. Single-cell analysis techniques are indispensable for understanding the...

    Jia Liu, Hui He, ... Zhen Liu in Nature Protocols
    Article 04 June 2021
  10. COX6C expression driven by copy amplification of 8q22.2 regulates cell proliferation via mediation of mitosis by ROS-AMPK signaling in lung adenocarcinoma

    Copy number variations (CNVs) play a vital role in regulating genes expression and tumorigenesis. We explored the copy number alterations in...

    Shuanghui Liu, Fanggui Shao, ... Zhixiong Dong in Cell Death & Disease
    Article Open access 19 January 2024
  11. Duplication Versus Deletion Through the Lens of 15q13.3: Clinical and Research Implications of Studying Copy Number Variants Associated with Neuropsychiatric Disorders in Induced Pluripotent Stem Cell-Derived Neurons

    Copy number variants (CNVs), involving duplication or deletion of susceptible intervals of the human genome, underlie a range of neurodevelopmental...

    Irene Antony, Mishka Narasimhan, ... Kristen L. Kroll in Stem Cell Reviews and Reports
    Article 12 November 2022
  12. Comprehensive characterization and clinical relevance of the SWI/SNF copy number aberrations across human cancers

    Background

    Alterations in genes encoding chromatin regulatory proteins are prevalent in cancers and may confer oncogenic properties and molecular...

    Zhiwei **ng, Buhuan Ma, ... Caixia Liu in Hereditas
    Article Open access 01 October 2021
  13. GSA: an independent development algorithm for calling copy number and detecting homologous recombination deficiency (HRD) from target capture sequencing

    Background

    The gain or loss of large chromosomal regions or even whole chromosomes is termed as genomic scarring and can be observed as copy number...

    Dongju Chen, Minghui Shao, ... Tai** Shi in BMC Bioinformatics
    Article Open access 23 November 2021
  14. 16S rRNA Gene Copy Number Normalization Does Not Provide More Reliable Conclusions in Metataxonomic Surveys

    Sequencing 16S rRNA gene amplicons is the gold standard to uncover the composition of prokaryotic communities. The presence of multiple copies of...

    Robert Starke, Victor Satler Pylro, Daniel Kumazawa Morais in Microbial Ecology
    Article Open access 29 August 2020
  15. isoCNV: in silico optimization of copy number variant detection from targeted or exome sequencing data

    Background

    Accurate copy number variant (CNV) detection is especially challenging for both targeted sequencing (TS) and whole‐exome sequencing (WES)...

    Rosa Barcelona-Cabeza, Walter Sanseverino, Riccardo Aiese Cigliano in BMC Bioinformatics
    Article Open access 29 October 2021
  16. Detection of copy number variants in African goats using whole genome sequence data

    Background

    Copy number variations (CNV) are a significant source of variation in the genome and are therefore essential to the understanding of...

    Wilson Nandolo, Gábor Mészáros, ... Johann Sölkner in BMC Genomics
    Article Open access 29 May 2021
  17. Regulation of gene editing using T-DNA concatenation

    Transformation via Agrobacterium tumefaciens is the predominant method used to introduce exogenous DNA into plant genomes 1 , 2 . Transfer DNA (T-DNA)...

    Lauren Dickinson, Wenxin Yuan, ... Yannick Jacob in Nature Plants
    Article 31 August 2023
  18. Mutation Detection in Gamma-Irradiated Banana Using Low Coverage Copy Number Variation

    Mutagenesis of in vitro propagated bananas is an efficient method to introduce novel alleles and broaden genetic diversity. The FAO/IAEA Plant...
    Joanna Jankowicz-Cieslak, Ivan L. Ingelbrecht, Bradley J. Till in Efficient Screening Techniques to Identify Mutants with TR4 Resistance in Banana
    Chapter Open access 2022
  19. Digital PCR (dPCR) and qPCR mediated determination of transgene copy number in the forage legume white clover (Trifolium repens)

    Obtaining data on transgene copy number is an integral step in the generation of transgenic plants. Techniques such as Southern blot, segregation...

    Rafael Narancio, Ulrik John, ... German Spangenberg in Molecular Biology Reports
    Article 16 April 2021
  20. Improving high-resolution copy number variation analysis from next generation sequencing using unique molecular identifiers

    Background

    Recently, copy number variations (CNV) impacting genes involved in oncogenic pathways have attracted an increasing attention to manage...

    Pierre-Julien Viailly, Vincent Sater, ... Fabrice Jardin in BMC Bioinformatics
    Article Open access 12 March 2021
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