Completely phased genome sequencing through chromosome sorting

被引：64

作者：

Yang, Hong ^{[1
,2
]}

Chen, Xi ^{[1
,2
]}

Wong, Wing Hung ^{[1
,2
,3
]}

机构：

[1] Stanford Univ, Dept Stat, Stanford, CA 94305 USA

[2] Stanford Univ, Bio X Program, Stanford, CA 94305 USA

[3] Stanford Univ, Dept Hlth Res & Policy, Stanford, CA 94305 USA

来源：

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA | 2011年 / 108卷 / 01期

基金：

美国国家卫生研究院; 美国国家科学基金会;

关键词：

haplotype; phased sequencing; single chromosome sequencing; SNP; GENE-EXPRESSION; HAPLOTYPES; MECHANISMS; ORIGIN;

D O I：

10.1073/pnas.1016725108

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

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.

引用

页码：12 / 17

页数：6

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