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

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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Bibliographic Details
Main Authors: 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
Format: Article
Language:English
Published: Wiley 2019-06-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
cell‐free DNA
chromosome aneuploidy
NIPSCCD
NIPT
subchromosomal CNVs
Online Access:https://doi.org/10.1002/mgg3.674

Internet

https://doi.org/10.1002/mgg3.674

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