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J Vis Exp. 2017 Aug 24;(126). doi: 10.3791/56342.

Detection of Rare Mutations in CtDNA Using Next Generation Sequencing.

Journal of visualized experiments : JoVE

Xiaoxing Lv, Meiru Zhao, Yuting Yi, Lucheng Zhang, Yanfang Guan, Tao Liu, Ling Yang, Rongrong Chen, Jianhui Ma, Xin Yi

Affiliations

  1. Geneplus-Beijing Institute.
  2. Geneplus-Beijing Institute; [email protected].

PMID: 28872127 PMCID: PMC5614374 DOI: 10.3791/56342

Abstract

The analysis of circulating tumor DNA (ctDNA) using next-generation sequencing (NGS) has become a valuable tool for the development of clinical oncology. However, the application of this method is challenging due to its low sensitivity in analyzing the trace amount of ctDNA in the blood. Furthermore, the method may generate false positive and negative results from this sequencing and subsequent analysis. To improve the feasibility and reliability of ctDNA detection in the clinic, here we present a technique which enriches rare mutations for sequencing, Enrich Rare Mutation Sequencing (ER-Seq). ER-Seq can distinguish a single mutation out of 1 x 10

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