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Updated: Jun 27, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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VarPPUD:为未被诊断的遗传疾病开发的后优先级变异

Rui Yin1,2, Alba Gutierrez1,

  • 1Department of Biomedical Informatics, Harvard Medical School, Boston, MA 02115.

medRxiv : the preprint server for health sciences
|May 3, 2024
PubMed
概括

一种名为VarPPUD的新工具有助于在罕见情况下识别引起疾病的遗传变异. 它改进了现有的诊断具有挑战性的未诊断病例的方法,帮助研究人员了解遗传疾病.

关键词:
未被诊断的疾病网络.诊断变体预测 诊断变体预测整体预测器是一个整体预测器.生成性的对抗性网络.模型的解释性可解释性不确定意义的变体.

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