High-density genotyping and linkage disequilibrium in the human genome using chromosome 22 as a model.
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.
Remm
Maido
M
Estonian Biocentre, University of Tartu, Riia str. 23, Tartu 51010, Estonia. mremm@ebc.ee
Metspalu
Andres
A
D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D014644:Genetic Variation; D015894:Genome, Human; D005838:Genotype; D006801:Humans; D015810:Linkage Disequilibrium / Q000235:genetics*; D008957:Models, Genetic; D020641:Polymorphism, Single Nucleotide; D011995:Recombination, Genetic