copy number variation
Copy number variation and Huntington’s disease
... 1.1 Copy Number Variation Variation in the human genome encompasses single-nucleotide polymorphisms (SNPs), small insertion-deletion (indel) polymorphisms, variable numbers of repetitive ...
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Copy number variation in the Framingham Heart Study
... between copy number variation and diabetes in a subset of individuals from the Framingham Heart ...called copy number variation using two algorithms: the genome alteration ...
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Single cell copy number variation detection
... Detection of chromosomal aberrations from a single cell by array comparative genomic hybridization (single-cell array CGH), instead of from a population of cells, is an emerging technique. However, such detection is ...
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Genetic Association Testing of Copy Number Variation
... 1.3 Marker-level testing Two general strategies have been proposed for conducting genetic association studies of copy-number variation. The rst approach, which we refer to as variant-level test- ...
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Analysis of rare copy number variation in absence epilepsies
... 5 copy number variation; GCTS 5 generalized tonic-clonic seizures; GSW 5 generalized spike- wave discharges; JAE 5 juvenile absence epilepsy; NA 5 not available; PSW 5 polyspike-wave discharges; UAE ...
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Analysis of rare copy number variation in absence epilepsies.
... 5 copy number variation; GCTS 5 generalized tonic-clonic seizures; GSW 5 generalized spike- wave discharges; JAE 5 juvenile absence epilepsy; NA 5 not available; PSW 5 polyspike-wave discharges; UAE ...
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Characterization of the alpha defensin copy number variation in humans
... genomic variation, CNVs mostly include non-coding ...low- copy repeats, VNTRs, segmental duplications or transposable ...on copy number variation of such sequences (Nguyen et ...higher ...
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The functional impact of copy number variation in the human genome
... of copy number variation using both a dis- ease association approach and a prediction-based approach with a focus on heterozygous LOF ...lation variation, and integrate other sources of ...
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Plasmodium copy number variation scan: gene copy numbers evaluation in haploid genomes
... Johann Beghain 1* , Anne‑Claire Langlois 2 , Eric Legrand 1 , Laura Grange 3 , Nimol Khim 2 , Benoit Witkowski 2 , Valentine Duru 2 , Laurence Ma 4 , Christiane Bouchier 4 , Didier Ménard 2 , Richard E. Paul 3 and ...
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Plasmodium copy number variation scan: gene copy numbers evaluation in haploid genomes.
... Johann Beghain 1* , Anne‑Claire Langlois 2 , Eric Legrand 1 , Laura Grange 3 , Nimol Khim 2 , Benoit Witkowski 2 , Valentine Duru 2 , Laurence Ma 4 , Christiane Bouchier 4 , Didier Ménard 2 , Richard E. Paul 3 and ...
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DNA Copy Number Variation in a Cohort of Healthy Australian Women
... Abstract Copy number variation (CNV) has been recently reported to contribute to genetic ...described copy number variation using lymphoblastoid cell lines or by application of ...
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Dynamics of copy number variation in host races of the pea aphid.
... Abstract Copy number variation (CNV) makes a major contribution to overall genetic variation and is suspected to play an important role in ...for copy number, especially in the ...
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Copy number variation in the human Y chromosome in the UK population
... pound haplotypes for the human Y chromosome. Hum Mol Genet 3:115–123 Mills RE, Walter K, Stewart C, Handsaker RE, Chen K, Alkan C, Abyzov A, Yoon SC, Ye K, Cheetham RK, Chinwalla A, Conrad DF, Fu Y, Grubert F, ...
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Study of Genomic Copy Number Variation in Equine Health and Disease
... importance is the central theme of this dissertation, detailed description of CNV research in horses and other mammals will be provided later in “Genomic Copy Number Variation (CNV)” and “Present ...
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Phylogenetic Reconstruction Analysis on Gene Order and Copy Number Variation
... cancer copy number ...cells. Copy number profiles provide a tool to better understand how the genomic structure alteration occurs from the ...of copy number profiles has a ...
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Copy number variation of human AMY1 is a minor contributor to variation in salivary amylase expression and activity
... AMY1 copy number measurement method than the qPCR methods previously ...that copy number plays much less of a role in salivary amylase expression and activity than has been previously ...
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Parasite-host interaction in malaria: genetic clues and copy number variation
... Copy number variation in malaria treatment Interestingly, treatment of malaria may also be influenced by CNV ...CYP2A6 copy number is also associated with a higher plasma level of the ...
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MYC, FBXW7 and TP53 copy number variation and expression in Gastric Cancer
... one copy of the TP53 gene and also found a substantial decrease in TP53 mRNA level in GC tissues compared with paired non-neoplastic gas- tric tissue ...level, copy number, or clinico- pathological ...
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Diversity and regulatory impact of copy number variation in the primate Macaca fascicularis.
... genome-wide copy number variation among Cyno- molgus monkeys from cohorts used in pharmaceutical studies using a custom ...detected copy number variation, we used a Cynomolgus ...
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Measurement of absolute copy number variation reveals association with essential hypertension
... investigate copy number variation in regions previously associated with BP in genome-wide association studies by the use of absolute DNA quantitation of droplet digital PCR and the ‘power of extreme’ ...
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