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Updated: Jan 12, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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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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使用种群遗传学方法对变种病原性预测方法的基准测试

Mikhail Gudkov1,2, Loïc Thibaut3, Steven Monger2

  • 1Victor Chang Cardiac Research Institute, Darlinghurst, NSW 2010, Australia.

Bioinformatics advances
|November 4, 2025
PubMed
概括

变异性致病性预测因子对于罕见疾病研究至关重要. 我们的研究确定了CADD和REVEL作为使用人口数据的顶级预测者,避免了传统方法的偏见.

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