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Predictive value of recurrent DNA copy number variations
2008 IEEE International Workshop on Genomic Signal Processing and Statistics, 2008Recurrent copy number variations across multiple samples are increasingly used to identify the genes and the genomic locations that are statistically and biologically significant and correlated with certain diseases. In this paper, we evaluate the predictive power of copy number variations for detecting autism.
A.H. Tewfik +3 more
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Local DNA sequence determinants of FUT2 copy number variation
Transfusion, 2011pas de ...
Chen, Jian-Min +2 more
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Mitochondrial DNA Copy Number Variations in Gastrointestinal Tract Cancers: Potential Players
Journal of Gastrointestinal Cancer, 2021Alterations of mitochondria have been linked to several cancers. Also, the mitochondrial DNA copy number (mtDNA-CN) is altered in various cancers, including gastrointestinal tract (GIT) cancers, and several research groups have investigated its potential as a cancer biomarker. However, the exact causes of mtDNA-CN variations are not yet revealed.
Alikhani, Mehdi +4 more
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Progress in finding pathogenic DNA copy number variations in dyslipidemia
Current Opinion in Lipidology, 2019Purpose of review DNA copy number variations (CNVs) are large-scale mutations that include deletions and duplications larger than 50 bp in size. In the era when single-nucleotide variations were the major focus of genetic technology and research, CNVs were largely overlooked.
Jacqueline S. Dron +2 more
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Mitochondrial DNA copy number variation – A potential biomarker for early onset preeclampsia
Pregnancy Hypertension, 2021Oxidative stress has been hypothesized as a central component of both placental and endothelial dysfunction, leading to PE. This oxidative stress leading to mitochondrial dysfunction may be due to variations in mtDNA copy numbers as an adaptive response. In the present study we aimed to analyse mtDNA copy numbers in the placenta obtained after delivery
Aarti Yevale +5 more
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Yeasts have a four‐fold variation in ribosomal DNA copy number
Yeast, 1993AbstractBy employing pulsed‐field gel electrophoresis we have determined the size of the rDNA cluster in wild‐type yeast strains representing genera of Candida, Kluyveromyces, Pachysolen, Schizosaccharomyces and Torulaspora. Although the genome size of the examined species is similar (12·3–13·9 Mb), at least a four‐fold variation has been observed ...
George Desmond Clark-Walker, R. Maleszka
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Variation among alfalfa somaclones in copy number of repeated DNA sequences
Genome, 1993Repeated DNA sequences of alfalfa (Medicago sativa L.) somaclonal variants were analyzed to determine if changes in copy number had occurred during tissue culture. DNA clones containing highly repeated nuclear sequences from the diploid line HG2 (2x = 16) were slot blotted and probed with labeled DNAs from HG2 and several somaclones of HG2.
Kimberlee K. Kidwell, Thomas C. Osborn
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Copy Number Variation Detection by Single-Cell DNA Sequencing with SCOPE
2022Whole-genome single-cell DNA sequencing (scDNA-seq) enables the characterization of copy number profiles at the cellular level. This circumvents the averaging effects associated with bulk-tissue sequencing and has increased resolution yet decreased ambiguity in deconvolving cancer subclones and elucidating cancer evolutionary history. ScDNA-seq data is,
Rujin, Wang, Yuchao, Jiang
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PCR-Based Detection of DNA Copy Number Variation
2016Copy number variations are important polymorphisms that can influence gene expression within and close to the rearranged region, and results in phenotypic variation. Techniques that detect abnormalities in DNA copy number are therefore useful for studying the associations between DNA aberrations and disease phenotype and for locating critical genes ...
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Copy Number Variation Analysis on Cell-Free Serum DNA
2018Genome diversity comprises single nucleotide polymorphisms, deletions, insertions, and duplications. These gains and losses of DNA segments leading to rearrangements of sequences are termed copy number variations (CNVs). CNVs may disrupt genes and/or alter gene dosage and, thereby, have an impact on both protein-coding and noncoding genes. Accordingly,
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