Single Molecule Sequencing of Cell-free DNA from Maternal Plasma for Noninvasive Trisomy Detection
Minyue Dong, Liwei Deng, Huan Jin, Jinsen Cai, Huan Shang, Shuo Zhang, Yueping Zhang, Jinzhou Qin, Dikai Zhang, Feng Long, Renli Zhang, Runsheng Chen, Michael W. Deem, Jun Yu, Jiankui He
This study uses single molecule sequencing of cell-free DNA from maternal plasma to detect trisomy 13, 18, and 21 with improved sensitivity and reduced GC bias compared to NGS.
bioRxiv · Oct 27, 2017 · PreprintGenomics