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Updated: Sep 13, 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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使用染色体微阵列和基于三元的整体外基因组测序对患有先天性心脏病的儿童的遗传发现

Rui Guo1,2, Chunhong Duan2, Mehdi Zarrei3,4

  • 1Pediatric Research Institute, Children's Hospital Affiliated to Shandong University (Jinan Children's Hospital), Jinan, 250022, China.

Scientific reports
|July 27, 2025
PubMed
概括

使用染色体微阵列分析和全外基组测序的基因检测显著改善了先天性心脏病 (CHD) 的诊断. 结合这些方法提供了更高的诊断产量,特别是当心脏外特征存在时.

关键词:
染色体微阵列分析 (CMA)遗传性心脏病 (CHD) 是一种先天性心脏病.副本数量变化 (CNV) 的变化基于三元的整体外基因组测序 (trio-WES)

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