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Updated: May 5, 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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新生儿的晶状血管病:全基因组测序数据分析

Svetlana Dauengauer-Kirlienė1, Dovydas Pranauskas1, Yogen Singh2

  • 1Department of Human and Medical Genetics, Faculty of Medicine, Institute of Biomedical Sciences, Vilnius University, Vilnius, Lithuania.

Frontiers in pediatrics
|September 2, 2025
PubMed
概括

全基因组测序发现了新生儿与晶状血管病 (LSV) 的潜在遗传联系. 一种WNK1基因变异可能导致LSV,但需要进一步研究来证实其作用.

关键词:
视镜状血管病变新生儿人口数量超声波扫描全基因组测序

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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.
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