PCR-free whole exome sequencing: Cost-effective and efficient in detecting rare mutations.

Yamaguchi, Izumi; Watanabe, Takashi; Ohara, Osamu; Hasegawa, Yoshinori · PLoS One · 2019

basic_science · Level V

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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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