Simultaneous CNV-seq and WES: An effective strategy for molecular diagnosis of unexplained fetal structural anomalies

Simultaneous CNV-seq and WES: An effective strategy for molecular diagnosis of unexplained fetal structural anomalies

Background: Fetal structural anomalies are detected by ultrasound in approximately 3 % of pregnancies. Numerous genetic diagnostic strategies have been widely applied to identify the genetic causes of prenatal abnormalities. We aimed to assess the value of simultaneous copy number variation sequenci...

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Main Authors: Haoqing Zhang, Xinglan He, Yuankun Wang, Caiyun Li, Hongguo Jiang, Shuai Hou, Dongqun Huang, Wenqian Zhang, Jufang Tan, Xiaoyun Du, Yinli Cao, Danjing Chen, Haiying Yan, Lingling Peng, Dongzhu Lei
Format: Article
Language:English
Published: Elsevier 2024-10-01
Series:Heliyon
Subjects:
Copy number variation
Whole-exome sequencing
Prenatal diagnosis
Fetal structural anomalies
Turnaround time
Online Access:http://www.sciencedirect.com/science/article/pii/S2405844024154230
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