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

Abstract 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...

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Detalhes bibliográficos

Principais autores:	Dongyi Yu, Kai Zhang, Meiyan Han, Wei Pan, Ying Chen, Yunfeng Wang, Hongyan Jiao, Ling Duan, Qiying Zhu, Xiaojie Song, Yan Hong, Chen Chen, Juan Wang, Feng Hui, Linzhou Huang, Chongjian Chen, Yang Du
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Wiley 2019-06-01
coleção:	Molecular Genetics & Genomic Medicine
Assuntos:	cell‐free DNA chromosome aneuploidy NIPSCCD NIPT subchromosomal CNVs
Acesso em linha:	https://doi.org/10.1002/mgg3.674
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