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Updated: Jun 22, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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评估用于产前诊断的CNV检测工具,使用羊水临床全外测序数据进行产前诊断

Qi Guo1, Yue Zhang1, Xin Gui1

  • 1Department of Prenatal Diagnosis Center, Women and Children's Hospital of Chongqing Medical University, China; Department of Prenatal Diagnosis Center, Chongqing Health Center for Women and Children, Chongqing 401147, China.

Genomics
|January 10, 2026
PubMed
概括

临床整体外基因组测序 (cWES) 可以选产前样本中的拷贝数变异 (CNV). 优化控制样本,CNV功能和工具集成可以改善检测,但cWES还不能取代专门的CNV测试.

关键词:
胚胎液是什么 胚胎液是什么 胚胎液是什么生物信息学工具 生物信息学工具临床整体外基因组测序副本数量变化的变化产前诊断 在产前诊断.

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相关概念视频

Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...