title: An evaluation of HapMap sample size and tagging SNP performance in large-scale empirical and simulated data sets.
abstract: A substantial investment has been made in the generation of large public resources designed to enable the identification of tag SNP sets, but data establishing the adequacy of the sample sizes used are limited. Using large-scale empirical and simulated data sets, we found that the sample sizes used in the HapMap project are sufficient to capture common variation, but that performance declines substantially for variants with minor allele frequencies of <5%.
authors.affiliation: Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK. elez@well.ox.ac.uk
authors.forename: Eleftheria
authors.initials: E
authors.lastname: Zeggini
authors.forename: William
authors.initials: W
authors.lastname: Rayner
authors.forename: Andrew P
authors.initials: AP
authors.lastname: Morris
authors.forename: Andrew T
authors.initials: AT
authors.lastname: Hattersley
authors.forename: Mark
authors.initials: M
authors.lastname: Walker
authors.forename: Graham A
authors.initials: GA
authors.lastname: Hitman
authors.forename: Panos
authors.initials: P
authors.lastname: Deloukas
authors.forename: Lon R
authors.initials: LR
authors.lastname: Cardon
authors.forename: Mark I
authors.initials: MI
authors.lastname: McCarthy
mesh_terms: D002874:Chromosome Mapping; D030561:Databases, Nucleic Acid; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics*; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D015894:Genome, Human / Q000235:genetics*; D006801:Humans; D015810:Linkage Disequilibrium; D020641:Polymorphism, Single Nucleotide; D018401:Sample Size