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内体位置 +9 和 -9 是从内体变异的潜在拼接站点边界. 分析整个外体序列数据的整个外体序列数据

Li Zhang1, Minna Shen1, Xianhong Shu2

  • 1Department of Laboratory Medicine, Zhongshan Hospital, Fudan University, Shanghai, China.

BMC medical genomics
|June 26, 2023
PubMed
概括

整个外体序列 (WES) 识别了影响基因表达的内基因变异. 这项研究揭示了这些变异的特征,突出了+9/-9作为拼接边界的位置和+5/-5作为拼接和基因表达的关键位置.

关键词:
遗传诊断是一种基因诊断.内部特征的表征.内心位置 +9 和 -9 .内部区域与外部区域相邻的内部区域.内部变体的内部变体下一代测序 (NGS) 是指下一代的测序.在WES WES中,您可以使用整个外基因组的测序.

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