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Mutation Detection

  1. RGH Cotton

Published Online: 27 JAN 2006

DOI: 10.1038/npg.els.0005672



How to Cite

Cotton, R. 2006. Mutation Detection. eLS. .

Author Information

  1. Genomic Disorders Research Centre, St Vincent's Hospital Melbourne, Fitzroy, Australia

Publication History

  1. Published Online: 27 JAN 2006


Mutation detection is essential for the practice of modern biology. Because sequencing deoxyribonucleic acid (DNA) to detect changes in DNA (mutations) is not cost-effective, a range of methods have been developed to detect mutations for the first time and a different set of methods to look for previously defined mutations.


  • genotyping;
  • mutation discovery;
  • heteroduplex;
  • point mutations;
  • single nucleotide polymorphism