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Updated: Jan 17, 2026

Identification of Alternative Splicing and Polyadenylation in RNA-seq Data
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转录组全方位的异常方法识别了具有轻微拼接病变的个体

Taylor M Arriaga1, Rodrigo Mendez2, Rachel A Ungar3

  • 1Department of Genetics, Stanford University, Stanford, CA, USA.

American journal of human genetics
|September 20, 2025
PubMed
概括

这项研究引入了一种转录学第一方法,通过分析RNA测序数据来诊断罕见疾病的拼接异常值. 这种方法成功地发现了影响小结合体的罕见遗传变异,增加了未诊断患者的诊断产量.

关键词:
在RNA测序过程中,RNA测序在RNA-seqqq.在RNU4ATAC中使用.在RNU6ATAC中使用.较小的拼接osome可以使用.罕见疾病是一种罕见的疾病.拼接病变 - 拼接病变拼接一个osomeome.拼接 拼接 拼接 拼接转录组宽的转录组宽.

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