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Measuring Single-Cell Mitochondrial DNA Copy Number and Heteroplasmy Using Digital Droplet Polymerase Chain Reaction
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Analysis of molecular inversion probe performance for allele copy number determination

Yuker Wang1, Martin Moorhead, George Karlin-Neumann

  • 1Affymetrix Inc, Shoreline Blvd, South San Francisco, CA 94080, USA. Yuker_Wang@affymetrix.com

Genome Biology
|November 22, 2007
PubMed

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Comparing Copy Number Variations and SNPs02:26

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%...