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Accuracy of expanded noninvasive prenatal testing for maternal copy number variations: A comparative study with CNV-seq of maternal lymphocyte DNA

Objective: To evaluate the accuracy of expanded noninvasive prenatal testing (NIPT) for maternal copy number variations. Materials and methods: Expanded NIPT was used to detect CNVs ≥2 Mb at a whole-genome scale. The threshold of maternal deletion was copy numbers (CN) ≤ 1.6, and the threshold of ma...

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Principais autores: Honglei Duan, Wanjun Wang, Ying Zhang, Xuemei Chen, Zihan Jiang, Jie Li
פורמט: Artigo
שפה:Inglês
יצא לאור: Elsevier 2024-07-01
סדרה:Taiwanese Journal of Obstetrics & Gynecology
נושאים:
Noninvasive prenatal testing
Copy number variations
Lymphocyte DNA
Cell-free DNA
גישה מקוונת:http://www.sciencedirect.com/science/article/pii/S1028455924001311
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