title: Haplotype homozygosity and derived alleles in the human genome.
abstract: Haplotype-based techniques are being used to estimate the relative age of alleles--particularly in screening loci for signals of recent positive selection--but does this approach capture even coarse age differences? Using simulations and empirical data from the International HapMap Project, we show that a simple pairwise metric of haplotype homozygosity gives significantly higher mean values for human single-nucleotide-polymorphism alleles that appear to be derived than for those that appear to be ancestral, as determined by comparison with the chimpanzee genome. Our results support the use of haplotype-based techniques, such as extended haplotypic homozygosity, to assess the age of alleles.
authors: Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, OX3 7BN, United Kingdom. afry@well.ox.ac.uk
authors: Andrew E
authors: AE
authors: Fry
authors: Clare J
authors: CJ
authors: Trafford
authors: Martin A
authors: MA
authors: Kimber
authors: Man-Suen
authors: MS
authors: Chan
authors: Kirk A
authors: KA
authors: Rockett
authors: Dominic P
authors: DP
authors: Kwiatkowski