Method
Enrichment of sequencing targets from the human genome by solution hybridization
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* Corresponding authors: Olivier Harismendy oharismendy@ucsd.edu - Kelly A Frazer kafrazer@ucsd.edu
- † Equal contributors
1 Scripps Genomic Medicine, Scripps Translational Science Institute, The Scripps Research Institute, 3344 N. Torrey Pines Court, La Jolla, CA 92037, USA
2 Division of Biological Sciences, University of California San Diego, 9500 Gilman Dr., La Jolla, CA 92093, USA
3 Agilent Technologies, Inc., 5301 Stevens Creek Blvd., Santa Clara, CA 95051, USA
4 Current address: Moores UCSD Cancer Center, 3855 Health Sciences Drive 0901, La Jolla, CA 92093-0901, USA
Genome Biology 2009, 10:R116 doi:10.1186/gb-2009-10-10-r116
Published: 16 October 2009Abstract
To exploit fully the potential of current sequencing technologies for population-based studies, one must enrich for loci from the human genome. Here we evaluate the hybridization-based approach by using oligonucleotide capture probes in solution to enrich for approximately 3.9 Mb of sequence target. We demonstrate that the tiling probe frequency is important for generating sequence data with high uniform coverage of targets. We obtained 93% sensitivity to detect SNPs, with a calling accuracy greater than 99%.