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Updated: May 6, 2026

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长读数和光学映射在帕金森病中对结构变异的互补性

André Fienemann1, Theresa Lüth1, Susen Schaake1

  • 1Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.

Annals of clinical and translational neurology
|February 7, 2026
PubMed
概括

光学基因组映射和纳米孔测序都检测出帕金森病中的大型结构变异. 光学映射在识别较大的变异方面表现出色,而纳米孔测序则为结构变异分析提供了补充验证.

关键词:
帕金森病的疾病.纳米孔长读序列测序通过光学基因组映射进行基因组映射.结构变体 结构变体

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