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Serum and Plasma Copy Number Detection Using Real-time PCR
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Detection of increased gene copy number in DNA from dried blood spot samples allows efficient screening for

L Aksglaede1, I D Garn, M V Hollegaard

  • 1Department of Growth and Reproduction, Faculty of Health Sciences, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark. lise.aksglaede@rh.regionh.dk

Acta Paediatrica (Oslo, Norway : 1992)
|August 30, 2012
PubMed
Abstract

No abstract available in PubMed .

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Comparing Copy Number Variations and SNPs

Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...