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Updated: Jan 14, 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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A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

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通过全外体测序对128名患有神经发育障碍的中国人进行基因鉴定

Yayun Qin1, Huang Cao1, Lijun Liu1

  • 1Medical Genetics Center, Maternal and Child Health Hospital of Hubei Province, Wuhan, China.

Developmental neuroscience
|October 24, 2025
PubMed
概括

双维全外体序列测序 (WES) 通过结合单核酸变异和副本数变异分析,显著改善神经发育障碍 (NDD) 诊断. 这种方法增强了对遗传异质性的理解,并有助于准确治疗NDD的策略.

关键词:
副本编号变体的变体遗传咨询 遗传咨询 遗传咨询神经发育障碍 神经发育障碍不确定的意义的变体.整体外基因组测序的测序

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