Nature Biotechnology
16, 54 - 58 (1998)
doi:10.1038/nbt0198-54
Accurate sequencing by hybridization for DNA diagnostics and individual genomicsSnezana Drmanac1, David Kita1, Ivan Labat1, Brian Hauser1, Carl Schmidt2, John D. Burczak2
& Radoje Drmanac1, *
1Hyseq Inc., 670 Almanor Ave., Sunnyvale, CA 94086.
2Department of Molecular Diagnostics, SmithKline Beecham Pharmaceutical Co., 709 Swedeland Rd.,King of Prussia, PA 19486.
*Corresponding author (e-mail: rade@sbh.com). 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 oligonu-cleotides. 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.
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