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Updated: May 3, 2026

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使用中等覆盖全基因组测序 (CMA-Seq) 对胎儿结构异常的产前诊断:在3973个怀孕中使用CMA进行大规模比较研究

Yan Jiang1, Fang Liu1, Lijuan Zhong1

  • 1Chongqing Health Centre for Women and Children/Women and Children's Hospital of Chongqing Medical University, Chongqing, China.

BJOG : an international journal of obstetrics and gynaecology
|May 23, 2025
PubMed
概括

中等覆盖全基因组测序 (CMA-seq) 为胎儿异常提供了卓越的产前诊断,比传统的染色体微阵列分析 (CMA) 更有效地检测低级别的马赛克形,小副本数变异和异构性缺失.

关键词:
在CMA-seqq.染色体异常是一种染色体异常.胎儿的结构异常.产前诊断 产前诊断 产前诊断整个基因组的测序.

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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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