A method for noninvasive detection of fetal large deletions/duplications by low coverage massively parallel sequencing (pages 584–590)
Shengpei Chen, Tze Kin Lau, Chunlei Zhang, Chenming Xu, Zhengfeng Xu, Ping Hu, Jian Xu, Hefeng Huang, Ling Pan, Fuman Jiang, Fang Chen, Xiaoyu Pan, Weiwei Xie, Ping Liu, Xuchao Li, Lei Zhang, Songgang Li, Yingrui Li, Xun Xu, Wei Wang, Jun Wang, Hui Jiang and Xiuqing Zhang
Article first published online: 17 MAY 2013 | DOI: 10.1002/pd.4110
What's already known about this topic?
- Sequencing-based noninvasive prenatal detection of fetal aneuploidy has been proven to be highly accurate. However, it is still a challenge to detect fetal deletion/duplication syndrome because of the interference from maternal DNA in maternal plasma.
What does this study add?
- Here, we developed a practical bioinformatic methodology to detect fetal chromosomal deletions/duplications of >10 Mb using low coverage whole genome sequencing of maternal plasma.