Quantitative identification of mutant alleles derived from lung cancer in plasma cell-free DNA via anomaly detection using deep sequencing data.
Quantitative identification of mutant alleles derived from lung cancer in plasma cell-free DNA via anomaly detection using deep sequencing data.
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DOI：
10.1371/journal.pone.0081468
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发表时间：
2013
期刊：
影响因子：
3.7
通讯作者：
Kato K
中科院分区：
文献类型：
--
作者：
Kukita Y;Uchida J;Oba S;Nishino K;Kumagai T;Taniguchi K;Okuyama T;Imamura F;Kato K
使用下一代测序检测罕见突变体具有相当大的诊断应用潜力。检测循环肿瘤DNA是这种方法的最重要应用。其使用的主要障碍是下一代测序仪的高读取错误率。而不是增加最终序列的准确性，我们检测到罕见的突变，使用半导体测序仪和一组异常检测标准的基础上，在每个错误位置的读取错误率的统计模型。从正常样品的序列数据推导出统计模型。我们检测了肺癌患者血浆DNA中表皮生长因子受体（EGFR）的突变。单程深度测序（> 100，000个读数）能够在10，000个正常等位基因中检测到一个激活突变等位基因。我们使用22个前瞻性样本和155个回顾性样本证实了该方法，其中大部分样本由从血浆中纯化的DNA组成。一项时间分析表明，选择表皮生长因子受体酪氨酸激酶抑制剂（EGFR-TKI）可能用于疾病管理和治疗决策。
The detection of rare mutants using next generation sequencing has considerable potential for diagnostic applications. Detecting circulating tumor DNA is the foremost application of this approach. The major obstacle to its use is the high read error rate of next-generation sequencers. Rather than increasing the accuracy of final sequences, we detected rare mutations using a semiconductor sequencer and a set of anomaly detection criteria based on a statistical model of the read error rate at each error position. Statistical models were deduced from sequence data from normal samples. We detected epidermal growth factor receptor (EGFR) mutations in the plasma DNA of lung cancer patients. Single-pass deep sequencing (>100,000 reads) was able to detect one activating mutant allele in 10,000 normal alleles. We confirmed the method using 22 prospective and 155 retrospective samples, mostly consisting of DNA purified from plasma. A temporal analysis suggested potential applications for disease management and for therapeutic decision making to select epidermal growth factor receptor tyrosine kinase inhibitors (EGFR-TKI).
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影响因子：
8.4
作者：
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影响因子：
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DOI：
10.1073/pnas.1208715109
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DOI：
10.1073/pnas.0507904102
发表时间：
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影响因子：
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作者：
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影响因子：
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作者：
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