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Updated: Jun 24, 2025

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

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鉴定与神经发育障碍相关的CNV位点中的新型驱动风险基因

Sara Azidane1, Xavier Gallego2, Lynn Durham2

  • 1STALICLA Discovery and Data Science Unit, World Trade Center, Moll de Barcelona, Edif Este, 08039 Barcelona, Spain; Institut de Biotecnologia i de Biomedicina, Universitat Autònoma de Barcelona, Bellaterra, 08193 Barcelona, Spain.

HGG advances
|June 8, 2024
PubMed
概括

大副本数变异 (CNV) 与神经发育障碍 (NDD) 有关. 这项研究确定了41个NDD风险的CNV位点和162个剂量敏感基因,揭示了许多NDD病例的多基因模型.

关键词:
副本编号变体的变体破译数据库的数据库.这里是SFARI数据库.自闭症谱系障碍 自闭症谱系障碍负载测试 负载测试 负载测试对剂量敏感的基因在iHART队列中,神经发育障碍 神经发育障碍风险基因和风险路径结构变体 结构变体

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