Accurate sequencing by hybridization for DNA diagnostics and individual genomics
Accurate sequencing by hybridization for DNA diagnostics and individual genomics
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DOI：
10.1038/nbt0198-54
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发表时间：
1998-01-01
影响因子：
46.9
通讯作者：
Drmanac, R
中科院分区：
文献类型：
--
作者：
Drmanac, S;Kita, D;Drmanac, R
医学DNA诊断将越来越依赖于对影响基因功能的突变进行准确和廉价的识别。为了验证杂交诊断测序(SBH)的有效性，用8192个非互补7聚体寡核苷酸的全套分析了大量的P53样本。在四个重复的盲法实验中，我们准确地对12个具有碱基替换、插入和缺失的纯合子和杂合子样本中的每个样本进行了1.1kb的测序。这种SBH变异体提供了一个高通量平台，可以在临床实验室环境中廉价地对单个基因或病原体基因组样本进行测序。
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.