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Noninvasive prenatal detection for pathogenic CNVs: the application in α-thalassemia.
|Title||Noninvasive prenatal detection for pathogenic CNVs: the application in α-thalassemia.|
|Publication Type||Journal Article|
|Year of Publication||2013|
|Authors||Ge H, Huang X, Li X, Chen S, Zheng J, Jiang H, Zhang C, Pan X, Guo J, Chen F, Chen N, Fang Q, Jiang H, Wang W|
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 detection.
|Alternate Journal||PLoS ONE|