title: Accurate sequencing by hybridization for DNA diagnostics and individual genomics.
abstract: 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.
authors.affiliation: Hyseq Inc., Sunnyvale, CA 94086, USA.
authors.forename: S
authors.initials: S
authors.lastname: Drmanac
authors.forename: D
authors.initials: D
authors.lastname: Kita
authors.forename: I
authors.initials: I
authors.lastname: Labat
authors.forename: B
authors.initials: B
authors.lastname: Hauser
authors.forename: C
authors.initials: C
authors.lastname: Schmidt
authors.forename: J D
authors.initials: JD
authors.lastname: Burczak
authors.forename: R
authors.initials: R
authors.lastname: Drmanac
mesh_terms: D004247:DNA; D017931:DNA Primers / Q000032:analysis*; D005091:Exons; D016158:Genes, p53 / Q000235:genetics; D015894:Genome, Human; D005838:Genotype; D006801:Humans; D009154:Mutation / Q000235:genetics*; D009693:Nucleic Acid Hybridization; D015345:Oligonucleotide Probes; D015203:Reproducibility of Results; D017421:Sequence Analysis / Q000379:methods
chemical_list: D017931:DNA Primers; D015345:Oligonucleotide Probes; D004247:DNA