Evaluating the accuracy of a functional SNP annotation system

Terry H Shen1, Christopher S Carlson, Peter Tarczy-Hornoch

  • 1Departments of Biomedical & Health Informatics, University of Washington, Seattle, WA, USA. hyshen@u.washington.edu

BMC Bioinformatics
|September 19, 2009
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%...