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Recurrent DNA copy number variation in the laboratory mouse

Nature Genetics, 2007
Different species, populations and individuals vary considerably in the copy number of discrete segments of their genomes. The manner and frequency with which these genetic differences arise over generational time is not well understood. Taking advantage of divergence among lineages sharing a recent common ancestry, we have conducted a genome-wide ...
Chris M, Egan   +3 more
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Variations in Mitochondrial DNA Copy Numbers in MS Brains

Journal of Molecular Neuroscience, 2008
The aim of this study is to determine if there is a pathology-related variation in mitochondrial (mt)DNA copy numbers in brains of patients with multiple sclerosis (MS). Our recent study demonstrated an age-dependent but excluded a MS pathology-related increase in the proportion of cytochrome oxidase (COX)-negative cells and deleted mtDNA molecules in ...
Andrei, Blokhin   +3 more
openaire   +2 more sources

Distribution and functional impact of DNA copy number variation in the rat

Nature Genetics, 2008
The abundance and dynamics of copy number variants (CNVs) in mammalian genomes poses new challenges in the identification of their impact on natural and disease phenotypes. We used computational and experimental methods to catalog CNVs in rat and found that they share important functional characteristics with those in human. In addition, 113 one-to-one
Guryev V.   +11 more
openaire   +5 more sources

Progress in finding pathogenic DNA copy number variations in dyslipidemia

Current Opinion in Lipidology, 2019
Purpose 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.
Michael A, Iacocca   +2 more
openaire   +2 more sources

Copy Number Variation Detection by Single-Cell DNA Sequencing with SCOPE

2022
Whole-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
openaire   +2 more sources

Yeasts have a four‐fold variation in ribosomal DNA copy number

Yeast, 1993
AbstractBy 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 ...
R, Maleszka, G D, Clark-Walker
openaire   +2 more sources

Local DNA sequence determinants of FUT2 copy number variation

Transfusion, 2011
pas de ...
Chen, Jian-Min   +2 more
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Variation among alfalfa somaclones in copy number of repeated DNA sequences

Genome, 1993
Repeated 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.
K K, Kidwell, T C, Osborn
openaire   +2 more sources

Mitochondrial DNA copy number variation – A potential biomarker for early onset preeclampsia

Pregnancy Hypertension, 2021
Oxidative 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
Deeksha, Pandey   +5 more
openaire   +2 more sources

Transfer Learning across Cancers on DNA Copy Number Variation Analysis

2013 IEEE 13th International Conference on Data Mining, 2013
DNA copy number variations (CNVs) are prevalent in all types of tumors. It is still a challenge to study how CNVs play a role in driving tumorgenic mechanisms that are either universal or specific in different cancer types. To address the problem, we introduce a transfer learning framework to discover common CNVs shared across different tumor types as ...
Huanan Zhang, Ze Tian, Rui Kuang
openaire   +1 more source

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