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Updated: Jul 16, 2025

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aenmd:对具有蛋白质截断变体的转录来说,注释从无意中介衰变中逃脱

Jonathan Klonowski1, Qianqian Liang1, Zeynep Coban-Akdemir2

  • 1Department of Developmental Biology, University of Pittsburgh School of Medicine, Pittsburgh, PA 15201, United States.

Bioinformatics (Oxford, England)
|September 9, 2023
PubMed
概括

一个名为aenmd的新软件识别了导致过早终止密码子 (PTCs) 和逃脱无意义介导的mRNA衰变 (NMD) 的人类DNA变异. 这有助于了解疾病中的主导-负或功能增益等位基因.

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