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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Dades bibliogràfiques
Publicat a:Mol Genet Genomic Med
Autors principals: 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
Idioma:Inglês
Publicat: John Wiley and Sons Inc. 2019
Matèries:
Original Articles
Accés en línia: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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