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Updated: May 27, 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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副本数变异和大脑皮层的触角扩张

Zhijie Liao1,2, Kuldeep Kumar1, Jakub Kopal3,4

  • 1Centre de Recherche du CHU Sainte-Justine, Montreal, QC, Canada.

Nature communications
|February 17, 2025
PubMed
概括

罕见的遗传变异称为副本数变异 (CNVs) 影响人类大脑大小. DNA片段的删除和重复与较小的大脑皮层表面积 (SA) 联系在一起,通过影响神经前细胞生长.

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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%...
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