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Updated: Jun 15, 2025

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使用长读测序和光学基因组映射技术探索神经退行性疾病

Guillaume Cogan1,2,3,4, Kensuke Daida1,2,5, Cornelis Blauwendraat1,2

  • 1Laboratory of Neurogenetics, National Institute on Aging, Bethesda, Maryland, USA.

Movement disorders : official journal of the Movement Disorder Society
|March 3, 2025
PubMed
概括

长读测序和光学基因组映射通过检测旧方法遗漏的复杂变异来改善神经退行性疾病的遗传诊断. 这些先进技术提高了我们对神经遗传疾病的理解.

关键词:
长阅读序列编排 长阅读序列编排神经退行性疾病的神经退行性疾病通过光学基因组映射进行基因组映射.

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