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Genome Biol. 2009;10(10):R116. doi: 10.1186/gb-2009-10-10-r116. Epub 2009 Oct 16.

Enrichment of sequencing targets from the human genome by solution hybridization.

Author information

1
Scripps Genomic Medicine, Scripps Translational Science Institute, The Scripps Research Institute, 3344 N Torrey Pines Court, La Jolla, CA 92037, USA. rtewhey@ucsd.edu

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%.

PMID:
19835619
PMCID:
PMC2784331
DOI:
10.1186/gb-2009-10-10-r116
[Indexed for MEDLINE]
Free PMC Article

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