Enrichment of sequencing targets from the human genome by solution hybridization
Authors:
- Ryan TewheyRTRyan Tewhey
- Masakazu NakanoMNMasakazu Nakano
- Xiaoyun WangXWXiaoyun Wang
- Carlos Pabón-PeñaCPCarlos Pabón-Peña
- Barbara NovakBNBarbara Novak
- Angelica GiuffreAGAngelica Giuffre
- Eric LinELEric Lin
- Scott HappeSHScott Happe
- Doug N RobertsDRDoug N Roberts
- Emily M LeProustELEmily M LeProust
- Eric J TopolETEric J Topol
- Olivier HarismendyOHOlivier Harismendy
Open Access
- 16 October 2009
- journal article
- Published by Springer Nature in Genome Biology
- Vol. 10 (10) , R116
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%.Keywords
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