Spectrum of Mutations in the Human Genome Inferred by Single Nucleotide Polymorphisms
Published Online: 14 MAR 2008
Copyright © 2001 John Wiley & Sons, Ltd. All rights reserved.
How to Cite
Zhongming, Z. 2008. Spectrum of Mutations in the Human Genome Inferred by Single Nucleotide Polymorphisms. eLS. .
- Published Online: 14 MAR 2008
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The spectrum of mutations in the human genome inferred by single nucleotide polymorphisms (SNPs) may be measured by three approaches: directly observed frequencies of nucleotide changes, relative frequencies of nucleotide changes by normalizing the nucleotide content and frequencies of nucleotide changes after excluding the CpG effect. The spectrum of mutations indicates that point mutation does not occur randomly in the human genome and varies between the categorized genomic regions.
- spectrum of mutations;
- mutation direction;
- single nucleotide polymorphisms (SNPs);
- nucleotide change;
- CpG effect