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

• Published in: PloS one Vol. 14; no. 9; p. e0222562
• Main Authors: Yamaguchi, Izumi, Watanabe, Takashi, Ohara, Osamu, Hasegawa, Yoshinori
• Format: Journal Article
• Language: English
• Published: United States Public Library of Science 13-09-2019; Public Library of Science (PLoS)
• Subjects: Biology and life sciences; Cancer; Cost-Benefit Analysis; Deoxyribonucleic acid; DNA; DNA - genetics; DNA sequencing; Ethanol; Exome - genetics; Gene Library; Gene mutation; Gene sequencing; Genomes; Genomics; High-Throughput Nucleotide Sequencing - methods; Humans; Laboratories; Methods; Mutation; Mutation - genetics; Polymerase chain reaction; Polymerase Chain Reaction - methods; Polymorphism, Single Nucleotide - genetics; Research and Analysis Methods; Sequence Analysis, DNA - methods; Whole Exome Sequencing - methods; United States > US; Japan
• ISSN: 1932-6203; 1932-6203
• DOI: 10.1371/journal.pone.0222562

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.