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Updated: Jun 7, 2025

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
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在1499个中国夫妇中,扩展载体查224个单基因疾病基因:单中心研究

Jianxin Tan1, Juan Tan1, Zhu Jiang1

  • 1Department of Prenatal Diagnosis, Women's Hospital of Nanjing Medical University, Nanjing Women and Children's Healthcare Hospital, Nanjing, P.R. China.

Clinical chemistry and laboratory medicine
|November 19, 2024
PubMed
概括

扩展载体查 (ECS) 显示,中国夫妇中衰退性遗传疾病的载体率很高. 在受影响的怀孕中,ECS影响生殖选择,导致明智的决策和终止怀孕.

关键词:
中国人口中国人口.扩大了运营商查的范围.下一代测序的下一代测序.在产前诊断 产前诊断生殖决定的生殖决定

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Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
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