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Showing 1 to 20 of 404 for “"Copy number"”.
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Clinical Interpretation of Novel Copy Number Variations
Copy Number Variations: CNVs) are a significant source of human genetic diversity and are believed to be responsible for a wide variety of phenotypic variation. Recent advances in microarray-based genomic hybridization techniques have facilitated CNV analysis as a viable diagnostic technique in the …
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Computational Analysis of Genome-Wide DNA Copy Number Changes
DNA copy number change is an important form of structural variation in human genome. Somatic copy number alterations (CNAs) can cause over expression of oncogenes and loss of tumor suppressor genes in tumorigenesis. Recent development of SNP array technology has facilitated studies on copy number …
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Decoding Copy Number Substructure and Evolution From Single Cell Genomics
… model of TNBC evolution is the Punctuated Copy Number Evolution (PCNE), in which tumors undergo a period of elevated genomic instability, acquiring complex genomic rearrangements within a short timeframe followed by clonal stasis. However, these observations rely on limited cell numbers and …
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Computational Insights Into The Generation of Chromosomal Copy Number Changes
… alterations — such as duplications, deletions or copy-neutral loss-of-heterozygosity — are thus important forms of genetic variation for phenotyping populations of individuals as well as populations of cells. Indeed, copy number variants (CNVs) serve as hallmarks of critical changes in the …
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Simplified Low Copy Number Dna Analysis By Post Pcr Purification
… of standard 28 cycle PCR such that low copy number DNA templates (<100 pg DNA) can be analyzed. Full profiles were consistently obtained with as little as 20 pg template DNA without increased cycle number. In mock case type samples with dermal ridge fingerprints, genetic profiles were …
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Accelerated Adaptation through Stimulated Copy Number Variation in Saccharomyces cerevisiae
Accelerated Adaptation through Stimulated Copy Number Variation in Saccharomyces cerevisiae Ryan Matthew Hull Repetitive regions of the genome, such as the centromeres, telomeres and ribosomal DNA account for a large proportion of the genetic variation between individuals. Differences in the number …
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Prevalence and prevention of large-scale somatic copy number alterations
… of megabases, as occurs with sub-chromosome copy number variants (CNVs) or whole-chromosome aneuploidy, is almost always associated with embryonic lethality or severe disease. However, while large-scale genomic imbalance has adverse consequences at the organismal level, both CNVs and …
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Evolution and vulnerabilities of somatic copy number alterations in cancer
… screens to perform an unbiased analysis of all copynumber: gene dependency interactions. We identify a class of interactions called CYCLOPS interactions in which genomic loss of essential genes sensitizes cancer cells to their further suppression. We explore the properties of CYCLOPS genes and …
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Mitochondrial DNA Copy Number, Insulinemic Potential of Lifestyle, and Colorectal Cancer
… It has been increasingly recognized that mtDNA copy number (mtDNAcn) is a biomarker for mitochondrial function and cellular oxidative stress. To date, the few studies that have assessed associations between mtDNAcn and CRC outcomes have yielded inconsistent findings. Further, no epidemiologic …
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Driver genes associated to Broad Copy Number Aberrations in solid cancers
… aberrations are collectively called Broad Copy Number Aberrations (BCNAs) and mainly include aneuploidy (i.e. an incorrect number of one or more chromosomes like monosomy, trisomy, or tetrasomy), and gains or losses of chromosomal arm as well as of large chromosomal segments with a size > …
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The functional impact of copy number variation in the human genome
Copy number variation (CNV) is a class of genetic variation where large segments of the genome vary in copy number among different individuals. It has become clear in the past decade that CNV affects a significant proportion of the human genome and can play an important role in human disease. With …
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Identification of DNA Copy Number-Dependent Transcriptional Deregulation inHepatocellular Carcinoma (HCC)
… genomic profiles analysis, in which the genomic copy numbers and gene expression profiles are analyzed by the integrative way to define the chromosomal regions with both genomic copy number variation and concomitant transcriptional deregulation, is posited to provide a promising strategy to …
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Characterisation of Copy Number Changes in the Progression of Barrett’s Oesophagus
… and are therefore monitored unnecessarily. Copy number changes have been shown to be important in the progression of BE to oesophageal adenocarcinoma (Li et al., 2014). Shallow whole genome sequencing (sWGS) has been established as a cost-effective method of investigating copy number changes …
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Hidden Markov Model inference copy number change in array-CGH data
… resulting in genomic changes involving DNA copy number gains or losses. Identifying the genomic location of these regional alterations provides important opportunities for the discovery of potential novel oncogenes and tumor suppressors. Recently, array based competitive genomic …
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Using network clustering to predict copy number variations associated with health disparities
… Americans and Caucasians in the United States. Copy number variations (CNVs) are one form of human genetic variations that have been linked with complex diseases and often occur at different frequencies among African Americans and Caucasian populations. In this study, we aimed to investigate …
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Decoding Brain Somatic Mosaicism with New Single-Cell Copy Number Analysis Methods
Copy number variants (CNVs) represent a significant but understudied form of somatic variation in the human brain, with potential implications for neurodevelopment, aging and disease. While single-cell whole-genome sequencing (scWGS) enables genome-wide profiling at single-cell resolution, existing …
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INSIGHTS INTO THE SELECTION AND FUNCTION OF COPY-NUMBER ALTERATIONS DURING CANCER EVOLUTION
… large- and small-scale alterations, such as copy-number alterations (CNAs) or single-nucleotide mutations, respectively. Those alterations play a critical role in tumor development, genetic diversity, and resistance to therapies. This thesis explores the selection and functional role of CNAs, …
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Frequency of Copy Number Variants Involving The Sex Chromosomes In A Clinical Setting
<p>Copy number variants (CNVs) are a common finding in the clinical setting and contribute to both genetic variation as well as disease. Recently, studies have described the accumulation of multiple CNVs as a disease modifying mechanism. While it has been characterized how additional CNVs may play …
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