Standard Article

Single Nucleotide Polymorphisms in Human Disease and Evolution: Phylogenies and Genealogies

  1. Paul D Thomas

Published Online: 15 JUL 2008

DOI: 10.1002/9780470015902.a0020763

eLS

eLS

How to Cite

Thomas, P. D. 2008. Single Nucleotide Polymorphisms in Human Disease and Evolution: Phylogenies and Genealogies. eLS. .

Author Information

  1. Evolutionary Systems Biology Group, SRI International, Menlo Park, California, USA

Publication History

  1. Published Online: 15 JUL 2008

Abstract

Single nucleotide polymorphisms (SNPs) are common genetic variants within a population. Several SNPs have been implicated directly in human diseases, but their biggest promise lies in their potential as genetic markers for discovering genetic factors in a wide variety of human diseases and other traits. There are two methods for modeling the processes by which population genetic variation has evolved: genealogy, the actual family tree in which genetic variants arose and were inherited from parents to children and phylogeny, a compressed history of how these genetic variants accumulated in lineages of successive copies of deoxyribonucleic acid (DNA) sequences. Genealogies and phylogenies are two ways to view the same evolutionary process, and each has specific applications to the discovery of genetic factors in human disease, especially relevant in the genomic era.

Keywords:

  • population genetics;
  • polymorphism;
  • disease;
  • evolution;
  • phylogenetics