Enrichment of sequencing targets from the human genome by solution hybridization

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


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%.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Cell Line
  • DNA Probes / metabolism
  • Exons / genetics
  • Gene Library
  • Genome, Human / genetics*
  • Genotype
  • Humans
  • Mutation / genetics
  • Nucleic Acid Hybridization / methods*
  • Oligonucleotide Array Sequence Analysis
  • Reproducibility of Results
  • Sequence Analysis, DNA / methods*
  • Solutions


  • DNA Probes
  • Solutions