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Updated: Jan 19, 2026

Detection of Rare Mutations in CtDNA Using Next Generation Sequencing
Published on: August 24, 2017
PCR-free whole exome sequencing: Cost-effective and efficient in detecting rare mutations
Izumi Yamaguchi1, Takashi Watanabe1, Osamu Ohara1
1Laboratory of Clinical Omics Research, Department of Applied Genomics, Kazusa DNA Research Institute, Chiba, Japan.
Abstract:
In this study, we describe the development of a PCR-free whole exome sequencing method. Using this method, 2 μg DNA was sufficient for library preparation for whole exome sequencing. Furthermore, the method is simple and makes use of a commercial kit, with additional step of concentrating the captured library by ethanol precipitation. The accuracy of the PCR-free method was found to be equivalent to that of unique molecular identifier-corrected analysis method, which is the commonly used method to detect rare mutations. Thus, the PCR-free whole exome sequencing method is cost-effective as well as efficient in detecting rare mutations.
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