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Updated: Sep 14, 2025

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对混合SNP微阵列和纳米孔测序进行比较分析,用于检测人类基因组中大尺寸拷贝数变异

Catarina Silva1,2, José Ferrão1, Bárbara Marques3

  • 1Technology and Innovation Unit, Human Genetics Department, National Institute of Health, Avenida Padre Cruz, 1649-016, Lisbon, Portugal.

Molecular cytogenetics
|July 23, 2025
PubMed
概括

纳米孔测序有效地检测到人类基因组的结构变异,包括复制数变异 (CNVs),与染色体微阵列相比,其精度很高. 为了进行全面的基因组分析,还需要进一步改进算法.

关键词:
副本数量变化的变化混合SNP微阵列的微阵列纳米孔测序的测序结构变化的结构变化.第三代测序系统是第三代测序系统.变体调用 变体调用整个基因组的测序.

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