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Spectrum of Mutations in the Human Genome Inferred by Single Nucleotide Polymorphisms

  1. Zhao Zhongming

Published Online: 14 MAR 2008

DOI: 10.1002/9780470015902.a0020852

eLS

eLS

How to Cite

Zhongming, Z. 2008. Spectrum of Mutations in the Human Genome Inferred by Single Nucleotide Polymorphisms. eLS. .

Author Information

  1. Virginia Commonwealth University, Richmond, Virginia, USA

Publication History

  1. Published Online: 14 MAR 2008

This is not the most recent version of the article. View current version (15 MAY 2013)

Abstract

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.

Keywords:

  • spectrum of mutations;
  • mutation direction;
  • single nucleotide polymorphisms (SNPs);
  • nucleotide change;
  • CpG effect