High-density genotyping and linkage disequilibrium in the human genome using chromosome 22 as a model

Curr Opin Chem Biol. 2002 Feb;6(1):24-30. doi: 10.1016/s1367-5931(01)00285-x.

Abstract

Technology and genetics have advanced to the point where genotyping thousands of individuals at thousands of marker locations around the whole human genome is possible. The whole-genome scan for detection of complex disease genes is a widely discussed topic. We review some of the recent high-density genotyping experiments and discuss related details, particularly the extent and variability of linkage disequilibrium. We also discuss the quality of single nucleotide polymorphisms (SNPs) in public databases and its consequences to the number of SNPs required for large-scale genotyping projects.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Chromosomes, Human, Pair 22 / genetics*
  • Genetic Variation
  • Genome, Human*
  • Genotype
  • Humans
  • Linkage Disequilibrium / genetics*
  • Models, Genetic
  • Polymorphism, Single Nucleotide
  • Recombination, Genetic