Gao, YanDeng, LiweiYan, QinGao, YongqianWu, ZengdingCai, JinsenJi, DaoruiLi, GailingWu, PingJin, HuanZhao, LuyangLiu, SongGe, LiangjinDeem, Michael W.He, Jiankui2016-11-102016-11-102016Gao, Yan, Deng, Liwei, Yan, Qin, et al.. "Single molecule targeted sequencing for cancer gene mutation detection." <i>Scientific Reports,</i> 6, (2016) Springer Nature: http://dx.doi.org/10.1038/srep26110.https://hdl.handle.net/1911/92702With 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.engThis work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third party material in this article are included in the articleﾒs Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material.Journal articlehttp://dx.doi.org/10.1038/srep26110