Whole exome capture in solution with 3 Gbp of data
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
Genome Biology 2010, 11:R62 doi:10.1186/gb-2010-11-6-r62Published: 17 June 2010
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.