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Updated: Jul 17, 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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[一个患有焦点细分质硬化和神经发育综合征的儿童的遗传分析]

Xuhui Sun1, Min Xin, Jingmei Tian

  • 1Department of Pediatrics, Shengli Oilfield Central Hospital, Dongying, Shandong 257034, China. liujinxiu1987@163.com.

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
|August 29, 2023
PubMed
概括

基因分析在患有焦点细分细胞凝聚硬化和神经发育综合征 (FSGSNEDS) 的儿童中发现了一种致病性TRIM8基因变异. 这一发现促进了对FSGSNEDS遗传学的理解.

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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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