title: The structure of haplotype blocks in the human genome.
abstract: Haplotype-based methods offer a powerful approach to disease gene mapping, based on the association between causal mutations and the ancestral haplotypes on which they arose. As part of The SNP Consortium Allele Frequency Projects, we characterized haplotype patterns across 51 autosomal regions (spanning 13 megabases of the human genome) in samples from Africa, Europe, and Asia. We show that the human genome can be parsed objectively into haplotype blocks: sizable regions over which there is little evidence for historical recombination and within which only a few common haplotypes are observed. The boundaries of blocks and specific haplotypes they contain are highly correlated across populations. We demonstrate that such haplotype frameworks provide substantial statistical power in association studies of common genetic variation across each region. Our results provide a foundation for the construction of a haplotype map of the human genome, facilitating comprehensive genetic association studies of human disease.
authors.affiliation: Whitehead/MIT Center for Genome Research, Cambridge, MA 02139, USA.
authors.forename: Stacey B
authors.initials: SB
authors.lastname: Gabriel
authors.forename: Stephen F
authors.initials: SF
authors.lastname: Schaffner
authors.forename: Huy
authors.initials: H
authors.lastname: Nguyen
authors.forename: Jamie M
authors.initials: JM
authors.lastname: Moore
authors.forename: Jessica
authors.initials: J
authors.lastname: Roy
authors.forename: Brendan
authors.initials: B
authors.lastname: Blumenstiel
authors.forename: John
authors.initials: J
authors.lastname: Higgins
authors.forename: Matthew
authors.initials: M
authors.lastname: DeFelice
authors.forename: Amy
authors.initials: A
authors.lastname: Lochner
authors.forename: Maura
authors.initials: M
authors.lastname: Faggart
authors.forename: Shau Neen
authors.initials: SN
authors.lastname: Liu-Cordero
authors.forename: Charles
authors.initials: C
authors.lastname: Rotimi
authors.forename: Adebowale
authors.initials: A
authors.lastname: Adeyemo
authors.forename: Richard
authors.initials: R
authors.lastname: Cooper
authors.forename: Ryk
authors.initials: R
authors.lastname: Ward
authors.forename: Eric S
authors.initials: ES
authors.lastname: Lander
authors.forename: Mark J
authors.initials: MJ
authors.lastname: Daly
authors.forename: David
authors.initials: D
authors.lastname: Altshuler
mesh_terms: D000349:Africa; D001741:Black or African American; D000483:Alleles; D044466:Asian People / Q000235:genetics; D044383:Black People / Q000235:genetics; D002681:China; D002874:Chromosome Mapping; D019295:Computational Biology; D003198:Computer Simulation; D005060:Europe; D014644:Genetic Variation; D015894:Genome, Human; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D007564:Japan; D015810:Linkage Disequilibrium; D008957:Models, Genetic; D020641:Polymorphism, Single Nucleotide; D011995:Recombination, Genetic; D044465:White People / Q000235:genetics