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Updated: Jan 17, 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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平衡的染色体插入作为重复的家族微观结构异常的机制:使用长读全基因组测序的详细分析

Hironao Shirai1,2,3, Keiko Shimojima Yamamoto3,4, Hirokazu Arai5

  • 1Division of Gene Medicine, Graduate School of Medical Science, Tokyo Women's Medical University, Tokyo, Japan.

Journal of human genetics
|September 24, 2025
PubMed
概括

经常出现的染色体异常,如插入,可以导致后代的发育问题. 长读测序揭示了隐藏的结构变化和染色合成作为两个家族的机制.

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