Noninvasive prenatal testing for fetal subchromosomal copy number variations and chromosomal aneuploidy by low‐pass whole‐genome sequencing

BACKGROUND: Expanding noninvasive prenatal testing (NIPT) to include the detection of fetal subchromosomal copy number variations (CNVs) significantly decreased the sensitivity and specificity. Developing analytic pipeline to achieve high performance in the noninvasive detection of CNVs will largely...

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Veröffentlicht in:Mol Genet Genomic Med
Hauptverfasser: Yu, Dongyi, Zhang, Kai, Han, Meiyan, Pan, Wei, Chen, Ying, Wang, Yunfeng, Jiao, Hongyan, Duan, Ling, Zhu, Qiying, Song, Xiaojie, Hong, Yan, Chen, Chen, Wang, Juan, Hui, Feng, Huang, Linzhou, Chen, Chongjian, Du, Yang
Format: Artigo
Sprache:Inglês
Veröffentlicht: John Wiley and Sons Inc. 2019
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Original Articles
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6565572/
https://ncbi.nlm.nih.gov/pubmed/31004415
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.674
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