Accurate sequencing by hybridization for DNA diagnostics and individual genomics.
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.
Drmanac
S
S
Hyseq Inc., Sunnyvale, CA 94086, USA.
Kita
D
D
Labat
I
I
Hauser
B
B
Schmidt
C
C
Burczak
J D
JD
Drmanac
R
R
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
D017931:DNA Primers; D015345:Oligonucleotide Probes; D004247:DNA