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Article

Noninvasive prenatal detection for pathogenic CNVs: the application in α-thalassemia.

PloS one - 1 Jan 2013

Ge Huijuan, Huang Xuan, Li Xuchao, Chen Shengpei, Zheng Jing, Jiang Haojun, Zhang Chunlei, Pan Xiaoyu, Guo Jing, Chen Fang, Chen Ning, Fang Qun, Jiang Hui, Wang Wei

Abstract excerpt

BACKGROUND: The discovery of cell free fetal DNA (cff-DNA) in maternal plasma has brought new insight for noninvasive prenatal diagnosis. Combining with the rapidly developed massively parallel sequencing technology, noninvasive prenatal detection of chromosome aneuploidy and single base variation has been successfully validated. However, few studies discussed the possibility of noninvasive pathogenic CNVs...

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PMID: 23840709
DOI: 10.1371/journal.pone.0067464
PMCID: PMC3696090

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