Standard Article

Single Nucleotide Polymorphisms (SNPs): Identification and Scoring

  1. Pui-Yan Kwok

Published Online: 23 SEP 2005

DOI: 10.1038/npg.els.0005393

eLS

eLS

How to Cite

Kwok, P.-Y. 2005. Single Nucleotide Polymorphisms (SNPs): Identification and Scoring. eLS. .

Author Information

  1. University of California, San Francisco, California, USA

Publication History

  1. Published Online: 23 SEP 2005

Abstract

Single nucleotide polymorphisms (SNPs) are the most abundant DNA sequence variations in the human genome. Numerous methods have been developed to identify and score them. A large set of human SNPs have been identified and mapped to the reference human genome sequence. The SNP markers are useful for the study of the genetic basis of many human diseases.

Keywords:

  • single nucleotide polymorphism;
  • SNP genotyping;
  • SNP discovery;
  • genetic mapping