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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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Bibliografiske detaljer
Udgivet i:Int J Mol Sci
Main Authors: Pös, Ondrej, Budis, Jaroslav, Kubiritova, Zuzana, Kucharik, Marcel, Duris, Frantisek, Radvanszky, Jan, Szemes, Tomas
Format: Artigo
Sprog:Inglês
Udgivet: MDPI 2019
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6769840/
https://ncbi.nlm.nih.gov/pubmed/31500242
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms20184403
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