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Whole exome capture in solution with 3 Gbp of data

Matthew N Bainbridge12, Min Wang1, Daniel L Burgess3, Christie Kovar1, Matthew J Rodesch3, Mark D'Ascenzo3, Jacob Kitzman3, Yuan-Qing Wu1, Irene Newsham1, Todd A Richmond3, Jeffrey A Jeddeloh3, Donna Muzny1, Thomas J Albert3 and Richard A Gibbs1*

Author Affiliations

1 Human Genome Sequencing Center, Baylor College of Medicine, One Baylor Plaza, Houston, Texas 77030, USA

2 Department of Structural and Computational Biology and Molecular Biophysics, Baylor College of Medicine, One Baylor Plaza, Houston, Texas 77030, USA

3 Roche NimbleGen, Inc., 504 S. Rosa Road Madison, WI 53719, USA

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Genome Biology 2010, 11:R62  doi:10.1186/gb-2010-11-6-r62

Published: 17 June 2010

Abstract

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.