title: Genome-wide definitive haplotypes determined using a collection of complete hydatidiform moles.
abstract: We present genome-wide definitive haplotypes, determined using a collection of 74 Japanese complete hydatidiform moles, each carrying a genome derived from a single sperm. The haplotypes incorporate 281,439 common SNPs, genotyped with a high throughput array-based oligonucleotide hybridization technique. Comparison of haplotypes inferred from pseudoindividuals (constructed from randomized mole pairs) with those of moles showed some switch errors in resolution of phases by the computational inference method. The effects of these errors on local haplotype structure and selection of tag SNPs are discussed. We also show that definitive haplotypes of moles may be useful for elucidation of long-range haplotype structure, and should be more effective for detecting extended haplotype homozygosity indicative of positive selection.
authors.affiliation: Division of Genome Analysis, Research Center for Genetic Information, Medical Institute of Bioregulation, Kyushu University, Fukuoka, Fukuoka 812-8582, Japan.
authors.forename: Yoji
authors.initials: Y
authors.lastname: Kukita
authors.forename: Katsuyuki
authors.initials: K
authors.lastname: Miyatake
authors.forename: Renee
authors.initials: R
authors.lastname: Stokowski
authors.forename: David
authors.initials: D
authors.lastname: Hinds
authors.forename: Koichiro
authors.initials: K
authors.lastname: Higasa
authors.forename: Norio
authors.initials: N
authors.lastname: Wake
authors.forename: Toshio
authors.initials: T
authors.lastname: Hirakawa
authors.forename: Hidenori
authors.initials: H
authors.lastname: Kato
authors.forename: Takao
authors.initials: T
authors.lastname: Matsuda
authors.forename: Krishna
authors.initials: K
authors.lastname: Pant
authors.forename: David
authors.initials: D
authors.lastname: Cox
authors.forename: Tomoko
authors.initials: T
authors.lastname: Tahira
authors.forename: Kenshi
authors.initials: K
authors.lastname: Hayashi
mesh_terms: D005260:Female; D005787:Gene Frequency; D015894:Genome, Human / Q000235:genetics*; D023281:Genomics / Q000379:methods; D006239:Haplotypes / Q000235:genetics*; D006801:Humans; D006828:Hydatidiform Mole / Q000235:genetics*; D007564:Japan; D015810:Linkage Disequilibrium; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics; D020411:Oligonucleotide Array Sequence Analysis; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D011247:Pregnancy; D014594:Uterine Neoplasms / Q000235:genetics*