Copy number variation (CNV) is a phenomenon in which sections of the genome are repeated and the number of repeats in the genome varies between individuals...
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1q21.1 copy number variations (CNVs) are rare aberrations of human chromosome 1. In a common situation a human cell has one pair of identical chromosomes...
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method has been demonstrated as useful for studying variations in gene sequences—such as copy number variants and point mutations. The polymerase chain...
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differences due to mutations occurring during development and gene copy-number variation. Differences between individuals, even closely related individuals...
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Gene dosage (section Copy number variation)
have two doses -- one copy from the mother and one from the father. Changes in gene dosage can be a result of copy number variation (gene insertions or...
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Genomic structural variation is the variation in structure of an organism's chromosome, such as deletions, duplications, copy-number variants, insertions...
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Copy number analysis is the process of analyzing data produced by a test for DNA copy number variation in an organism's sample. One application of such...
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compared to an annotated database. Copy-number variations (CNVs) are an abundant form of genome structure variation in humans. A discrete-valued bivariate...
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End-sequence profiling (section Copy number variation)
aberration. Before analyzing target genome structural aberration and copy number variation (CNV) with ESP, the target genome is usually amplified and conserved...
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variation in copy number in the human genome which questioned the characteristics of copy number variants in the human genome. It was known that copy...
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substitution and indels. Large-scale structural variation (>1 kb) can be either copy number variation (loss or gain), or chromosomal rearrangement (translocation...
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RCCX is a complex, multiallelic, and tandem copy number variation (CNV) human DNA locus on chromosome 6p21.3, a cluster located in the major histocompatibility...
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for instance, can be used to capture targets for SNPgenotyping, copy number variation or allelic imbalance studies, to name a few. In SNP genotyping,...
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regions in the human genome, is highly susceptible to copy number variation due to its frequent low-copy duplications. Whole exon sequencing and quantitative...
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hybridization (CGH) is a molecular cytogenetic method for analysing copy number variations (CNVs) relative to ploidy level in the DNA of a test sample compared...
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specific chromosomes or chromosomal abnormalities. DNA copy number variation: DNA copy number variation can be measured using flow cytometry techniques such...
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genomic copy number variation in cancer and other genetic diseases. In this technique, two genomes are compared for their differences in copy number on a...
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10–15% of autism cases may result from single gene disorders or copy number variations (CNVs)—spontaneous alterations in the genetic material during meiosis...
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Nationaal Vakverbond in Dutch Trade Unions Copy number variation in genetics contingent negative variation in evoked potentials Cranial nerve V, also...
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in Physiology or Medicine for the “Discovery of large-scale gene copy number variation and its association with specific diseases.” Scherer was born in...
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and host genomes using deep sequencing datasets. CNVseq detects copy number variations supported on a statistical model derived from array-comparative...
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(2015-10-08). "Single molecule sequencing of THCA synthase reveals copy number variation in modern drug-type Cannabis sativa L": 028654. doi:10.1101/028654...
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and disease phenotype is present. Copy number variation (CNV) refers to the differences in the number of copies of a particular region of the genome...
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prognostic role in this disease. Neuroblastoma has been linked to copy-number variation within the NBPF10 gene, which results in the 1q21.1 deletion syndrome...
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aids in detecting copy number variations, single nucleotide polymorphisms (SNPs), indels, and other genomic structural variations. Virtually started...
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2008 study of a new high-definition MLPA probe developed to detect copy number variation at 37 points on chromosome 22q found it to be as reliable as FISH...
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loss or increased copy number of genes within the deleted or duplicated region. It can also contribute to the copy number variation seen in some gene...
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interrupt the genome through insertions, deletions, rearrangements, and copy number variations. L1 activity has contributed to the instability and evolution of...
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Oncogenomics (section Copy number mutations)
Representational oligonucleotide microarray analysis: Detects copy number variation using amplified restriction-digested genomic fragments that are...
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making them useful markers of divergent evolution between species. Copy number variation and mutations in the SINE sequence make it possible to construct...
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