Enrichment of sequencing targets from the human genome by solution hybridization

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....

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Bibliographic Details
Published in:Genome biology 2009-01, Vol.10 (10), p.R116-R116, Article R116
Main Authors: Tewhey, Ryan, Nakano, Masakazu, Wang, Xiaoyun, Pabón-Peña, Carlos, Novak, Barbara, Giuffre, Angelica, Lin, Eric, Happe, Scott, Roberts, Doug N, LeProust, Emily M, Topol, Eric J, Harismendy, Olivier, Frazer, Kelly A
Format: Article
Language:English
Subjects:
Base Sequence
Cell Line
DNA Probes - metabolism
Exons - genetics
Gene Library
Genome, Human - genetics
Genotype
Humans
Method
Mutation - genetics
Nucleic Acid Hybridization - methods
Oligonucleotide Array Sequence Analysis
Reproducibility of Results
Sequence Analysis, DNA - methods
Solutions
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Summary: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%.
ISSN:1474-760X
1465-6906
1474-760X
1465-6914
DOI:10.1186/gb-2009-10-10-r116