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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Bibliografiska uppgifter
I publikationen:Mol Genet Genomic Med
Huvudupphovsmän: 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
Materialtyp: Artigo
Språk:Inglês
Publicerad: John Wiley and Sons Inc. 2019
Ämnen:
Original Articles
Länkar: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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