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Single molecule targeted sequencing for cancer gene mutation detection

Yan Gao, Liwei Deng, Qin Yan, Yongqian Gao, Zengding Wu, Jinsen Cai, Daorui Ji, Gailing Li, Ping Wu, Huan Jin, Luyang Zhao, Song Liu, Michael W. Deem, Jiankui He
doi: https://doi.org/10.1101/029686
Yan Gao
1Direct Genomics Co., Ltd. Shenzhen, Guangdong, China
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Liwei Deng
1Direct Genomics Co., Ltd. Shenzhen, Guangdong, China
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Qin Yan
1Direct Genomics Co., Ltd. Shenzhen, Guangdong, China
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Yongqian Gao
2Institute of Advanced Materials, Nanjing Tech University, Nanjing, Jiangsu, China
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Zengding Wu
1Direct Genomics Co., Ltd. Shenzhen, Guangdong, China
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Jinsen Cai
1Direct Genomics Co., Ltd. Shenzhen, Guangdong, China
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Daorui Ji
1Direct Genomics Co., Ltd. Shenzhen, Guangdong, China
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Gailing Li
1Direct Genomics Co., Ltd. Shenzhen, Guangdong, China
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Ping Wu
1Direct Genomics Co., Ltd. Shenzhen, Guangdong, China
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Huan Jin
1Direct Genomics Co., Ltd. Shenzhen, Guangdong, China
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Luyang Zhao
3Chemistry Department, North Carolina State University, Raleigh, NC, USA
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Song Liu
4Clinical Medical Research Center, the Second Clinical Medical College of Jinan University (Shenzhen People’s Hospital), Shenzhen, Guangdong, China
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Michael W. Deem
5Departments of Bioengineering and Physics & Astronomy, Rice University, Houston, TX, USA
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Jiankui He
6Department of Biology, South University of Science and Technology of China, Shenzhen, Guangdong, China
1Direct Genomics Co., Ltd. Shenzhen, Guangdong, China
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  • For correspondence: hejk@sustc.edu.cn
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Abstract

With the rapid decline cost of sequencing, it is now clinically affordable to examine multiple genes in a single disease-targeted test using next generation sequencing. Current targeted sequencing methods require a separate step of targeted capture enrichment during sample preparation before sequencing, and the library preparation process is labor intensive and time consuming. Here, we introduced an amplification-free Single Molecule Targeted Sequencing (SMTS) technology, which combined targeted capture and sequencing in one step. We demonstrated that this technology can detect low-frequency mutations of cancer genes. SMTS has several advantages, namely that it requires little sample preparation and avoids biases and errors introduced by PCR reaction. SMTS can be applied in cancer gene mutation detection, inherited condition screening and noninvasive prenatal diagnosis.

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Posted October 23, 2015.
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Single molecule targeted sequencing for cancer gene mutation detection
Yan Gao, Liwei Deng, Qin Yan, Yongqian Gao, Zengding Wu, Jinsen Cai, Daorui Ji, Gailing Li, Ping Wu, Huan Jin, Luyang Zhao, Song Liu, Michael W. Deem, Jiankui He
bioRxiv 029686; doi: https://doi.org/10.1101/029686
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Single molecule targeted sequencing for cancer gene mutation detection
Yan Gao, Liwei Deng, Qin Yan, Yongqian Gao, Zengding Wu, Jinsen Cai, Daorui Ji, Gailing Li, Ping Wu, Huan Jin, Luyang Zhao, Song Liu, Michael W. Deem, Jiankui He
bioRxiv 029686; doi: https://doi.org/10.1101/029686

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