Identification of Structural Variation from NGS-Based Non-Invasive Prenatal Testing

Copy number variants (CNVs) are an important type of human genome variation, which play a significant role in evolution contribute to population diversity and human genetic diseases. In recent years, next generation sequencing has become a valuable tool for clinical diagnostics and to provide sensit...

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Bibliographic Details
Main Authors: Ondrej Pös, Jaroslav Budis, Zuzana Kubiritova, Marcel Kucharik, Frantisek Duris, Jan Radvanszky, Tomas Szemes
Format: Article
Language:English
Published: MDPI AG 2019-09-01
Series:International Journal of Molecular Sciences
Subjects:
Online Access:https://www.mdpi.com/1422-0067/20/18/4403