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Updated: Jun 5, 2025

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发现四个患有自闭症谱系障碍的个体结构变异的复杂性

Sarah Dada1,2,3, Katherine Dixon1,4, Vahid Akbari1,4

  • 1Canada's Michael Smith Genome Sciences Centre, Vancouver, BC, Canada.

Genome
|December 12, 2024
PubMed
概括

长读测序揭示了自闭症谱系障碍 (ASD) 的复杂结构变异,改善了分子诊断. 这种先进的技术为个性化治疗提供了对基因组和甲基组的更深入的了解.

关键词:
自闭症谱系障碍 自闭症谱系障碍临床遗传学临床遗传学复杂的结构变体.纳米孔长读序列测序进行全基因组测序.

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