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Updated: Jul 14, 2025

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants
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低通全基因组测序是一种可靠且具有成本效益的方法,用于临床环境中的拷贝数变异分析

Patricia C Mazzonetto1,2, Darine Villela2, Silvia Souza da Costa1

  • 1The Human Genome and Stem Cell Research Center, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, SP, Brazil.

Annals of human genetics
|October 9, 2023
PubMed
概括

低通全基因组测序 (LP-WGS) 在临床细胞遗传学中有效检测复制数变异 (CNV). 这种方法表现出高的一致性和准确性,为诊断染色体失衡提供了染色体微阵列分析的可行替代方案.

关键词:
在CNV中,CNV是NV.副本号码的变化 副本号的变化细胞遗传学 细胞遗传学低通的全基因组测序.下一代测序 (NGS) 是指下一代的测序.产后诊断 产后诊断 产后诊断 产后诊断产前诊断 产前诊断 产前诊断结构变体结构变体

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Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
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