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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,...
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Read-depth based approach on whole genome resequencing data reveals important insights into the copy number variation (CNV) map of major global buffalo breeds
BackgroundElucidating genome-wide structural variants including copy number variations (CNVs) have gained increased significance in recent times...
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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,... -
Identification of the genetic characteristics of copy number variations in experimental specific pathogen-free ducks using whole-genome resequencing
BackgroundSpecific pathogen-free ducks are a valuable laboratory resource for waterfowl disease research and poultry vaccine development. High...
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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...
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Alterations in leukocyte telomere length and mitochondrial DNA copy number in benzene poisoning patients
ObjectiveThe aim of this study is to examine and evaluate the impact of benzene poisoning on the relative content of the mitochondrial MT-ND1 gene...
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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...
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Identification of copy number variation in Tibetan sheep using whole genome resequencing reveals evidence of genomic selection
BackgroundCopy number variation (CNV) is an important source of structural variation in the mammalian genome. CNV assays present a new method to...
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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...
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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...
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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...
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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,...
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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...
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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...
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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...
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Comparative and expression analyses of AP2/ERF genes reveal copy number expansion and potential functions of ERF genes in Solanaceae
BackgroundThe AP2/ERF gene family is a superfamily of transcription factors that are important in the response of plants to abiotic stress and...
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Algorithmic improvements for discovery of germline copy number variants in next-generation sequencing data
BackgroundCopy number variants (CNVs) play a significant role in human heredity and disease. However, sensitive and specific characterization of...
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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...
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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...