Department of Chemistry, Yonsei University, Seoul, Korea.
Cancer Research Institute, Seoul National University, Seoul, Korea.
Sci Rep. 2017 May 2;7:46678. doi: 10.1038/srep46678.
Deep sequencing is required for the highly sensitive detection of rare variants in circulating tumor DNA (ctDNA). However, there remains a challenge for improved sensitivity and specificity. Maximum-depth sequencing is crucial to detect minority mutations that contribute to cancer progression. The associated costs become prohibitive as the numbers of targets and samples increase. We describe the targeted sequencing of KRAS in plasma samples using an efficient barcoding approach to recover discarded reads marked as duplicates. Combined with an error-removal strategy, we anticipate that our method could improve the accuracy of genotype calling, especially to detect rare mutations in the monitoring of ctDNA.
深度测序对于检测循环肿瘤 DNA（ctDNA）中的稀有变体非常敏感。然而，仍然存在提高灵敏度和特异性的挑战。最大深度测序对于检测导致癌症进展的少数突变至关重要。随着目标和样本数量的增加，相关成本变得过高。我们描述了使用高效的条形码方法对血浆样本中的 KRAS 进行靶向测序，以回收标记为重复的丢弃读取。结合错误去除策略，我们预计我们的方法可以提高基因型调用的准确性，特别是在监测 ctDNA 中的稀有突变时。
