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 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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Drmanac, S., Kita, D., Labat, I. et al. Accurate sequencing by hybridization for DNA diagnostics and individual genomics. Nat Biotechnol 16, 54–58 (1998). https://doi.org/10.1038/nbt0198-54
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DOI: https://doi.org/10.1038/nbt0198-54
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