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  1. Understanding genetic variability: exploring large-scale copy number variants through non-invasive prenatal testing in European populations

    Large-scale copy number variants (CNVs) are structural alterations in the genome that involve the duplication or deletion of DNA segments,...

    Zuzana Holesova, Ondrej Pös, ... Tomas Szemes in BMC Genomics
    Article Open access 15 April 2024
  2. Read-depth based approach on whole genome resequencing data reveals important insights into the copy number variation (CNV) map of major global buffalo breeds

    Background

    Elucidating genome-wide structural variants including copy number variations (CNVs) have gained increased significance in recent times...

    Sheikh Firdous Ahmad, Celus Chandrababu Shailaja, ... Triveni Dutt in BMC Genomics
    Article Open access 16 October 2023
  3. Analysis of Copy Number Variation of DNA Repair/Damage Response Genes in Tumor Tissues

    Cells experience increased genome instability through the course of disease development including cancer initiation and progression. Point mutations,...
    Tadahide Izumi in Base Excision Repair Pathway
    Protocol 2023
  4. Identification of the genetic characteristics of copy number variations in experimental specific pathogen-free ducks using whole-genome resequencing

    Background

    Specific pathogen-free ducks are a valuable laboratory resource for waterfowl disease research and poultry vaccine development. High...

    Lanlan Li, **qiang Quan, ... Caixia Gao in BMC Genomics
    Article Open access 02 January 2024
  5. Best Practices in Microbial Experimental Evolution: Using Reporters and Long-Read Sequencing to Identify Copy Number Variation in Experimental Evolution

    Copy number variants (CNVs), comprising gene amplifications and deletions, are a pervasive class of heritable variation. CNVs play a key role in...

    Pieter Spealman, Titir De, ... David Gresham in Journal of Molecular Evolution
    Article Open access 03 April 2023
  6. Alterations in leukocyte telomere length and mitochondrial DNA copy number in benzene poisoning patients

    Objective

    The aim of this study is to examine and evaluate the impact of benzene poisoning on the relative content of the mitochondrial MT-ND1 gene...

    Dianpeng Wang, Dafeng Lin, ... Naixing Zhang in Molecular Biology Reports
    Article 19 February 2024
  7. Association between Sperm Mitochondrial DNA Copy Number and Concentrations of Urinary Cadmium and Selenium

    Elevated sperm mitochondrial DNA copy number (mtDNAcn) is associated with damage to sperm and poorer measures of semen quality. Exposure to cadmium...

    Cindy Rahman Aisyah, Yuki Mizuno, ... Shoko Konishi in Biological Trace Element Research
    Article Open access 27 September 2023
  8. Identification of copy number variation in Tibetan sheep using whole genome resequencing reveals evidence of genomic selection

    Background

    Copy number variation (CNV) is an important source of structural variation in the mammalian genome. CNV assays present a new method to...

    Huibin Shi, Taotao Li, ... Youji Ma in BMC Genomics
    Article Open access 19 September 2023
  9. CONET: copy number event tree model of evolutionary tumor history for single-cell data

    Copy number alterations constitute important phenomena in tumor evolution. Whole genome single-cell sequencing gives insight into copy number...

    Magda Markowska, Tomasz Cąkała, ... Ewa Szczurek in Genome Biology
    Article Open access 09 June 2022
  10. High heteroplasmy is associated with low mitochondrial copy number and selection against non-synonymous mutations in the snail Cepaea nemoralis

    Molluscan mitochondrial genomes are unusual because they show wide variation in size, radical genome rearrangements and frequently show high...

    Angus Davison, Mehrab Chowdhury, ... Mark Blaxter in BMC Genomics
    Article Open access 13 June 2024
  11. CmirC: an integrated database of clustered miRNAs co-localized with copy number variations in cancer

    Genomic rearrangements and copy number variations (CNVs) are the major regulators of clustered microRNAs (miRNAs) expression. Several clustered...

    Akshay Pramod Ware, Kapaettu Satyamoorthy, Bobby Paul in Functional & Integrative Genomics
    Article Open access 26 October 2022
  12. Differences in the intraspecies copy number variation of Arabidopsis thaliana conserved and nonconserved miRNA genes

    MicroRNAs (miRNAs) regulate gene expression by RNA interference mechanism. In plants, miRNA genes ( MIR s) which are grouped into conserved families,...

    Anna Samelak-Czajka, Pawel Wojciechowski, ... Agnieszka Zmienko in Functional & Integrative Genomics
    Article Open access 10 April 2023
  13. Copy number changes in co-expressed odorant receptor genes enable selection for sensory differences in drosophilid species

    Despite numerous examples of chemoreceptor gene family expansions and contractions, how these relate to modifications in the sensory neuron...

    Thomas O. Auer, Raquel Álvarez-Ocaña, ... J. Roman Arguello in Nature Ecology & Evolution
    Article 21 July 2022
  14. Long-insert sequence capture detects high copy numbers in a defence-related beta-glucosidase gene βglu-1 with large variations in white spruce but not Norway spruce

    Conifers are long-lived and slow-evolving, thus requiring effective defences against their fast-evolving insect natural enemies. The copy number...

    Tin Hang Hung, Ernest T. Y. Wu, ... John J. MacKay in BMC Genomics
    Article Open access 27 January 2024
  15. Integrated analysis of copy number variation-associated lncRNAs identifies candidates contributing to the etiologies of congenital kidney anomalies

    Congenital anomalies of the kidney and urinary tract (CAKUT) are disorders resulting from defects in the development of the kidneys and their outflow...

    Yibo Lu, Yiyang Zhou, ... Bo Wang in Communications Biology
    Article Open access 17 July 2023
  16. Comparative and expression analyses of AP2/ERF genes reveal copy number expansion and potential functions of ERF genes in Solanaceae

    Background

    The AP2/ERF gene family is a superfamily of transcription factors that are important in the response of plants to abiotic stress and...

    **-Wook Choi, Hyeon Ho Choi, ... Seungill Kim in BMC Plant Biology
    Article Open access 23 January 2023
  17. Algorithmic improvements for discovery of germline copy number variants in next-generation sequencing data

    Background

    Copy number variants (CNVs) play a significant role in human heredity and disease. However, sensitive and specific characterization of...

    Brendan O’Fallon, Jacob Durtschi, ... Hunter Best in BMC Bioinformatics
    Article Open access 19 July 2022
  18. Copy number variation-associated lncRNAs may contribute to the etiologies of congenital heart disease

    Copy number variations (CNVs) have long been recognized as pathogenic factors for congenital heart disease (CHD). Few CHD associated CNVs could be...

    Yibo Lu, Qing Fang, ... Bo Wang in Communications Biology
    Article Open access 17 February 2023
  19. Array-Based Comparative Genomic Hybridization for the Detection of Copy Number Alterations in Single Cells

    Comprehensive genome-wide analyses of single cells represent an important tool for clinical applications, such as pre-implantation diagnostic and...
    Giancarlo Feliciello, Zbigniew Tadeusz Czyz, Bernhard M. Polzer in Single Cell Analysis
    Protocol 2024
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