TY - JOUR T1 - Single molecule targeted sequencing for cancer gene mutation detection JF - bioRxiv DO - 10.1101/029686 SP - 029686 AU - Yan Gao AU - Liwei Deng AU - Qin Yan AU - Yongqian Gao AU - Zengding Wu AU - Jinsen Cai AU - Daorui Ji AU - Gailing Li AU - Ping Wu AU - Huan Jin AU - Luyang Zhao AU - Song Liu AU - Michael W. Deem AU - Jiankui He Y1 - 2015/01/01 UR - http://biorxiv.org/content/early/2015/10/23/029686.abstract N2 - 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. ER -