Genome-wide definitive haplotypes determined using a collection of complete hydatidiform moles

Genome-wide definitive haplotypes determined using a collection of complete hydatidiform moles
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DOI:
10.1101/gr.4371105
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发表时间:
2005-11-01
期刊:
影响因子:
7
通讯作者:
Hayashi, K
Hayashi, K
中科院分区:
生物学1区
文献类型:
--
作者:
Kukita, Y;Miyatake, K;Hayashi, K

文献摘要

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我们提出了全基因组确定的单倍型,使用收集的74个日本完整的葡萄胎,每个携带来自一个精子的基因组。单倍型包含281,439个常见的SNP,采用基于高通量阵列的寡核苷酸杂交技术进行基因分型。从伪个体(随机构建的摩尔对)推断的单倍型与摩尔的比较显示了一些开关的计算推理方法的相位分辨率的错误。这些错误对本地单倍型结构和标签SNPs的选择的影响进行了讨论。我们还表明,明确的单倍型的摩尔可能是有用的阐明长距离单倍型结构,并应更有效地检测扩展的单倍型纯合性指示的积极选择。
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.