Validation of Copy Number Variants Detection from Pregnant Plasma Using Low-Pass Whole-Genome Sequencing in Noninvasive Prenatal Testing-Like Settings

Validation of Copy Number Variants Detection from Pregnant Plasma Using Low-Pass Whole-Genome Sequencing in Noninvasive Prenatal Testing-Like Settings

Detection of copy number variants as an integral part of noninvasive prenatal testing is increasingly used in clinical practice worldwide. We performed validation on plasma samples from 34 pregnant women with known aberrations using cell-free DNA sequencing to evaluate the sensitivity for copy numbe...

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Bibliographic Details
Main Authors: Michaela Hyblova, Maria Harsanyova, Diana Nikulenkov-Grochova, Jitka Kadlecova, Marcel Kucharik, Jaroslav Budis, Gabriel Minarik
Format: Article
Language:English
Published: MDPI AG 2020-08-01
Series:Diagnostics
Subjects:
CNV detection
noninvasive prenatal testing (NIPT)
low-pass whole-genome sequencing
Online Access:https://www.mdpi.com/2075-4418/10/8/569

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https://www.mdpi.com/2075-4418/10/8/569

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