title: Single molecule targeted sequencing for cancer gene mutation detection.
abstract: With the rapid decline in cost of sequencing, it is now affordable to examine multiple genes in a single disease-targeted clinical test using next generation sequencing. Current targeted sequencing methods require a separate step of targeted capture enrichment during sample preparation before sequencing. Although there are fast sample preparation methods available in market, the library preparation process is still relatively complicated for physicians to use routinely. 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 using artificially synthesized DNA sample. SMTS has several potential advantages, including simple sample preparation thus no biases and errors are introduced by PCR reaction. SMTS has the potential to be an easy and quick sequencing technology for clinical diagnosis such as cancer gene mutation detection, infectious disease detection, inherited condition screening and noninvasive prenatal diagnosis.
authors.affiliation: Direct Genomics Co., Ltd., Shenzhen, Guangdong, 518055, China.
authors.forename: Yan
authors.initials: Y
authors.lastname: Gao
authors.affiliation: Direct Genomics Co., Ltd., Shenzhen, Guangdong, 518055, China.
authors.forename: Liwei
authors.initials: L
authors.lastname: Deng
authors.affiliation: Direct Genomics Co., Ltd., Shenzhen, Guangdong, 518055, China.
authors.forename: Qin
authors.initials: Q
authors.lastname: Yan
authors.affiliation: Key Laboratory of Flexible Electronics &Institute of Advanced Materials, Jiangsu National Synergetic Innovation Center for Advanced Materials, Nanjing Tech University, Nanjing, 211816, China.
authors.forename: Yongqian
authors.initials: Y
authors.lastname: Gao
authors.affiliation: Direct Genomics Co., Ltd., Shenzhen, Guangdong, 518055, China.
authors.forename: Zengding
authors.initials: Z
authors.lastname: Wu
authors.affiliation: Direct Genomics Co., Ltd., Shenzhen, Guangdong, 518055, China.
authors.forename: Jinsen
authors.initials: J
authors.lastname: Cai
authors.affiliation: Direct Genomics Co., Ltd., Shenzhen, Guangdong, 518055, China.
authors.forename: Daorui
authors.initials: D
authors.lastname: Ji
authors.affiliation: Direct Genomics Co., Ltd., Shenzhen, Guangdong, 518055, China.
authors.forename: Gailing
authors.initials: G
authors.lastname: Li
authors.affiliation: Direct Genomics Co., Ltd., Shenzhen, Guangdong, 518055, China.
authors.forename: Ping
authors.initials: P
authors.lastname: Wu
authors.affiliation: Direct Genomics Co., Ltd., Shenzhen, Guangdong, 518055, China.
authors.forename: Huan
authors.initials: H
authors.lastname: Jin
authors.affiliation: Chemistry Department, North Carolina State University, Raleigh, NC, 27695, USA.
authors.forename: Luyang
authors.initials: L
authors.lastname: Zhao
authors.affiliation: Clinical Medical Research Center, the Second Clinical Medical College of Jinan University (Shenzhen People's Hospital), Shenzhen, Guangdong, 518020, China.
authors.forename: Song
authors.initials: S
authors.lastname: Liu
authors.affiliation: Direct Genomics Co., Ltd., Shenzhen, Guangdong, 518055, China.
authors.forename: Liangjin
authors.initials: L
authors.lastname: Ge
authors.affiliation: Departments of Bioengineering and Physics &Astronomy, Rice University, Houston, TX, 77005, USA.
authors.forename: Michael W
authors.initials: MW
authors.lastname: Deem
authors.affiliation: Direct Genomics Co., Ltd., Shenzhen, Guangdong, 518055, China.|Department of Biology, South University of Science and Technology of China, Shenzhen, Guangdong, 518058, China.
authors.forename: Jiankui
authors.initials: J
authors.lastname: He
mesh_terms: D052138:Genes, Neoplasm; D059014:High-Throughput Nucleotide Sequencing / Q000379:methods*; D006801:Humans; D009154:Mutation; D009369:Neoplasms / Q000175:diagnosis / Q000473:pathology*; D057089:Pathology, Molecular / Q000379:methods*; D017422:Sequence Analysis, DNA / Q000379:methods*