Direct determination of haplotypes from single DNA molecules.

Direct determination of haplotypes from single DNA molecules.
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DOI:
10.1038/nmeth.1301
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发表时间:
2009-03
期刊:
影响因子:
48
通讯作者:
Kwok, Pui-Yan
Kwok, Pui-Yan
中科院分区:
生物学1区
文献类型:
--
作者:
Xiao, Ming;Wan, Eunice;Chu, Catherine;Hsueh, Wen-Chi;Cao, Yang;Kwok, Pui-Yan

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确定二倍体个体中的长距离单倍型是一个主要的技术挑战。在这里,我们报告了一种方法,分子单倍型直接成像多个多态性位点的个人DNA分子同时进行。我们证明了这种技术的实用性,通过准确地确定单倍型组成的基因组区域多达16个单核苷酸多态性多达50个酶。
Determining the long-range haplotypes in a diploid individual is a major technical challenge. Here we report a method of molecular haplotyping by directly imaging multiple polymorphic sites on individual human DNA molecules simultaneously. We demonstrate the utility of this technology by accurately determining the haplotypes consisting of up to 16 single-nucleotide polymorphisms in genomic regions up to 50 kilobases.
DOI: 10.1038/nature06258
发表时间: 2007-10-18
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