On transferability of genome-wide tagSNPs

Genet Epidemiol. 2008 Feb;32(2):89-97. doi: 10.1002/gepi.20269.

Abstract

The question of tagging single nucleotide polymorphism (tagSNP) transferability is an important one because many ongoing and upcoming Genome-Wide Association studies rely critically upon the validity, and practical feasibility of using a universal core set of tagSNPs. A series of recent studies analyzed performance of tagSNPs selected based on the HapMap. While these studies showed largely satisfactory transferability of the tagSNPs, they also reported that the level of transferability varies, substantively sometimes, especially when tagSNPs selected in one population were used in another distant population. We present a review of the literature about where and why tagSNP transferability may become a problem and suggest research directions that may help the resolution.

Publication types

  • Research Support, N.I.H., Extramural
  • Review

MeSH terms

  • Chromosome Mapping
  • Databases, Nucleic Acid
  • Genetic Markers*
  • Genome, Human*
  • Haplotypes
  • Humans
  • Linkage Disequilibrium*
  • Polymorphism, Single Nucleotide*

Substances

  • Genetic Markers