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Updated: Jun 3, 2025

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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

Maggie T Arriaga1, Rodrigo Mendez2, Rachel A Ungar1,3

  • 1Dept. of Genetics, Stanford Univ., Stanford, CA.

medRxiv : the preprint server for health sciences
|January 13, 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. 该方法成功识别了影响小结合体的新型遗传变异,增加了罕见遗传疾病的诊断产量.

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