Accurate sequencing by hybridization for DNA diagnostics and individual genomics

Nat Biotechnol. 1998 Jan;16(1):54-8. doi: 10.1038/nbt0198-54.


Medical DNA diagnostics will increasingly rely on an accurate and inexpensive identification of mutations that affect the function of a gene. To validate diagnostic sequencing by hybridization (SBH), a number of p53 samples were analyzed with the complete set of 8192 noncomplementary 7-mer oligonucleotides. In four repeated, blind experiments we accurately sequenced 1.1 kb per each of 12 homozygote and heterozygote samples possessing base substitutions, insertions, and deletions. This SBH variant offers a high throughput platform to inexpensively sequence individual gene or pathogen genome samples within the clinical laboratory setting.

MeSH terms

  • DNA
  • DNA Primers / analysis*
  • Exons
  • Genes, p53 / genetics
  • Genome, Human
  • Genotype
  • Humans
  • Mutation / genetics*
  • Nucleic Acid Hybridization*
  • Oligonucleotide Probes
  • Reproducibility of Results
  • Sequence Analysis / methods


  • DNA Primers
  • Oligonucleotide Probes
  • DNA