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Investigation on combined copy number variation sequencing and cytogenetic karyotyping for prenatal diagnosis

BACKGROUND: We aimed to evaluate the clinical value of copy number variation-sequencing (CNV-Seq) in combination with cytogenetic karyotyping in prenatal diagnosis. METHODS: CNV-Seq and cytogenetic karyotyping were performed in parallel for 9452 prenatal samples for comparison of the diagnostic perf...

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Shranjeno v:
Bibliografske podrobnosti
izdano v:BMC Pregnancy Childbirth
Main Authors: Zhang, Jinman, Tang, Xinhua, Hu, Jilin, He, Guilin, Wang, Jian, Zhu, Yingting, Zhu, Baosheng
Format: Artigo
Jezik:Inglês
Izdano: BioMed Central 2021
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC8265053/
https://ncbi.nlm.nih.gov/pubmed/34238233
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12884-021-03918-y
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