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Enrichment of sequencing targets from the human genome by solution hybridization

2009; BioMed Central; Volume: 10; Issue: 10 Linguagem: Inglês

10.1186/gb-2009-10-10-r116

1474-760X

Ryan Tewhey, Masakazu Nakano, Xiaoyun Wang, Carlos Pabón-Peña, Barbara Novak, A. Giuffre, Eric Y. Lin, Scott Happe, Doug N Roberts, Emily M LeProust, Eric J. Topol, Olivier Harismendy, Kelly A. Frazer,

RNA modifications and cancer

Abstract 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%.