Completely phased genome sequencing through chromosome sorting
Completely phased genome sequencing through chromosome sorting
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DOI：
10.1073/pnas.1016725108
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发表时间：
2011-01-04
影响因子：
11.1
通讯作者：
Wong, Wing Hung
中科院分区：
文献类型：
--
作者：
Yang, Hong;Chen, Xi;Wong, Wing Hung
一个人从父母双方继承的两个单倍体基因组序列代表了遗传性疾病研究和个性化医学发展的最基本有用的遗传信息类型。由于难以获得远程相位信息，目前的测序方法无法提供此信息。在这里，我们介绍并显示了一种可扩展的方法的可行性，该方法能够生成在整个染色体上完全定相的基因组序列。
The two haploid genome sequences that a person inherits from the two parents represent the most fundamentally useful type of genetic information for the study of heritable diseases and the development of personalized medicine. Because of the difficulty in obtaining long-range phase information, current sequencing methods are unable to provide this information. Here, we introduce and show feasibility of a scalable approach capable of generating genomic sequences completely phased across the entire chromosome.