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Updated: Jun 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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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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通过整体外基因组测序对流产和胎儿结构异常进行遗传分析

Jingjing Xiang1, Yang Ding1, Hui Tang1

  • 1The Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou Municipal Hospital, Gusu School, Nanjing Medical University, Suzhou, 215000, Jiangsu, China.

Orphanet journal of rare diseases
|September 9, 2024
PubMed
概括

整体外基因组测序 (WES) 在32.3%的病例中确定了胎儿结构异常的遗传原因. 这种基因测试提高了对产前表型和复发风险咨询的理解.

关键词:
在CNV中,CNV是NV.胎儿的结构异常怀孕期间的流产.变种 变种 变种 变种整个外基因组的测序.

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相关概念视频

Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
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