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Updated: Jan 18, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

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acmgscaler:一个R包和Colab用于在ACMG/AMP框架内的标准化基因水平变异效应得分校准

Mihaly Badonyi1, Joseph A Marsh1

  • 1MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh EH4 2XU, United Kingdom.

Bioinformatics (Oxford, England)
|September 10, 2025
PubMed
概括

这项研究引入了一个新的算法和R包,acmgscaler,将从变异效应测试和预测器的功能分数转换为用于临床变异分类的标准化证据强度. 这提高了临床环境中基因变异解释的准确性.

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Author Spotlight: Investigating the Role of Repetitive DNA Misregulation in Cancer Initiation and Immunotherapy Resistance04:58

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