A comprehensive profile of DNA copy number variations in a Korean population: identification of copy number invariant regions among Koreans [PDF]
Experimental and Molecular Medicine, 2009 To examine copy number variations among the Korean population, we compared individual genomes with the Korean reference genome assembly using the publicly available Korean HapMap SNP 50 k chip data from 90 individuals. Korean individuals exhibited 123 copy number variation regions (CNVRs) covering 27.2 mb, equivalent to 1.0% of the genome in the copy ...
Jae‐Pil Jeon +8 more
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Ribosomal DNA copy number loss and sequence variation in cancer
PLOS Genetics, 2017 Ribosomal DNA is one of the most variable regions in the human genome with respect to copy number. Despite the importance of rDNA for cellular function, we know virtually nothing about what governs its copy number, stability, and sequence in the mammalian genome due to challenges associated with mapping and analysis.
Hua Li +12 more
openaire +4 more sources
DNA copy number, including telomeres and mitochondria, assayed using next-generation sequencing
BMC Genomics, 2010 Background DNA copy number variations occur within populations and aberrations can cause disease. We sought to develop an improved lab-automatable, cost-efficient, accurate platform to profile DNA copy number.
Jackson Stuart +10 more
doaj +1 more source
Detection of
BMC Cancer, 2011 Background Mortality is high in patients with esophageal carcinoma as tumors are rarely detected before the disease has progressed to an advanced stage.
Iolascon Achille +12 more
doaj +1 more source
Mitochondrial DNA Copy-Number Variation and Pancreatic Cancer Risk in the Prospective EPIC Cohort [PDF]
Cancer Epidemiology, Biomarkers & Prevention, 2020 Abstract Background: Mitochondrial DNA (mtDNA) copy number in peripheral blood has been found to be associated with risk of developing several cancers. However, data on pancreatic ductal adenocarcinoma (PDAC) are very limited. Methods:
Roel Vermeulen +41 more
openaire +7 more sources
Reconstructing DNA copy number by joint segmentation of multiple sequences
BMC Bioinformatics, 2012 Background Variations in DNA copy number carry information on the modalities of genome evolution and mis-regulation of DNA replication in cancer cells. Their study can help localize tumor suppressor genes, distinguish different populations of cancerous ...
Zhang Zhongyang +2 more
doaj +1 more source
Copy number variation of ribosomal DNA and Pokey transposons in natural populations of Daphnia [PDF]
Mobile DNA, 2012 Despite their ubiquity and high diversity in eukaryotic genomes, DNA transposons are rarely encountered in ribosomal DNA (rDNA). In contrast, R-elements, a diverse group of non-LTR retrotransposons, specifically target rDNA. Pokey is a DNA transposon that targets a specific rDNA site, but also occurs in many other genomic locations, unlike R-elements ...
Shannon H. C. Eagle, Teresa J. Crease
openaire +4 more sources
Insights into PI3K/AKT signaling in B cell development and chronic lymphocytic leukemia
FEBS Letters, EarlyView.This Review explores how the phosphoinositide 3‐kinase and protein kinase B pathway shapes B cell development and drives chronic lymphocytic leukemia, a common blood cancer. It examines how signaling levels affect disease progression, addresses treatment challenges, and introduces novel experimental strategies to improve therapies and patient outcomes.
Maike Buchner
wiley +1 more source
An Integrated Approach for RNA-seq Data Normalization
Cancer Informatics, 2016 Background DNA copy number alteration is common in many cancers. Studies have shown that insertion or deletion of DNA sequences can directly alter gene expression, and significant correlation exists between DNA copy number and gene expression.
Shengping Yang +3 more
doaj +1 more source
Germline DNA copy number variation in familial and early-onset breast cancer [PDF]
Breast Cancer Research, 2012 Abstract Introduction Genetic factors predisposing individuals to cancer remain elusive in the majority of patients with a familial or clinical history suggestive of hereditary breast cancer. Germline DNA copy number variation (CNV) has recently been implicated in predisposition to cancers such as ...
Helena Brentani +17 more
openaire +3 more sources