Whole exome capture in solution with 3 Gbp of data

被引:120
作者
Bainbridge, Matthew N. [1 ,2 ]
Wang, Min [1 ]
Burgess, Daniel L. [3 ]
Kovar, Christie [1 ]
Rodesch, Matthew J. [3 ]
D'Ascenzo, Mark [3 ]
Kitzman, Jacob [3 ]
Wu, Yuan-Qing [1 ]
Newsham, Irene [1 ]
Richmond, Todd A. [3 ]
Jeddeloh, Jeffrey A. [3 ]
Muzny, Donna [1 ]
Albert, Thomas J. [3 ]
Gibbs, Richard A. [1 ]
机构
[1] Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA
[2] Baylor Coll Med, Dept Struct & Computat Biol & Mol Biophys, Houston, TX 77030 USA
[3] Roche NimbleGen Inc, Madison, WI 53719 USA
关键词
SELECTION; DISEASES; LOCI;
D O I
10.1186/gb-2010-11-6-r62
中图分类号
Q81 [生物工程学(生物技术)]; Q93 [微生物学];
学科分类号
071005 ; 0836 ; 090102 ; 100705 ;
摘要
We have developed a solution-based method for targeted DNA capture-sequencing that is directed to the complete human exome. Using this approach allows the discovery of greater than 95% of all expected heterozygous singe base variants, requires as little as 3 Gbp of raw sequence data and constitutes an effective tool for identifying rare coding alleles in large scale genomic studies.
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页数:8
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