Sequence Hybridization Pilot
Enrichment of sequencing targets from the human genome by solution hybridization.
Sequence reads for sequence enrichment described in Tewhey et al Genome Biol. 2009 Oct 16;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%.