Enrichment of sequencing targets from the human genome by solution hybridization

  title={Enrichment of sequencing targets from the human genome by solution hybridization},
  author={Ryan Tewhey and Masakazu Nakano and Xiaoyun Wang and Carlos Pab{\'o}n-Pe{\~n}a and Barbara A. Novak and Angelica C Giuffre and Eric Lin and Scott Happe and Doug N Roberts and Emily M. LeProust and Eric J. Topol and Olivier Harismendy and Kelly A. Frazer},
  booktitle={Genome Biology},
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… CONTINUE READING
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