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Updated: Jun 1, 2025

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夏天:一个集成的纳米孔测序管道用于人类基因组的变体检测和临床注释

Renqiuguo Li1, Hongyuan Chu1, Kai Gao1

  • 1Children's Medical Center, Peking University First Hospital, No.5 Le Yuan Road, Daxing District, 100034, Beijing, China.

Functional & integrative genomics
|January 21, 2025
PubMed
概括

SUMMER是一个新的工作流程,它分析纳米孔测序数据以检测各种遗传变异,有助于诊断罕见的遗传疾病. 这个工具可以改善临床基因组学应用的变异检测和注释.

关键词:
生物信息管道中的生物信息管道致病性注释 致病性注释结构变化的结构变化.串联重复重复一次.第三代测序系统是第三代测序系统.

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