Oct 23, 2015

Single molecule targeted sequencing for cancer gene mutation detection

BioRxiv : the Preprint Server for Biology
Yan GaoJiankui He


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. This technology can be applied in cancer gene mutation detection, inherited condition screening and high-resolution human leukocyte antigen (HLA) typing.

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Mentioned in this Paper

One Step (dimethicone)
One-Step Dentin Bonding System
Nucleic Acid Sequencing
Gene Mutation
HLA Antigens
Single Molecule Imaging
Gene Amplification Technique
Massively-Parallel Sequencing

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