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Updated: May 16, 2025

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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误解变体从同源蛋白质的致病性注释

Gabriel Ruiz-Alías1,2, Sergi Soldevila1,2, Xavier Altafaj3,4

  • 1Department of Biosciences, Faculty of Sciences and Technology, University of Vic-Central University of Catalonia, Vic, Barcelona, 08500, Spain.

Bioinformatics (Oxford, England)
|May 14, 2025
PubMed
概括

预测错误变种的病原性是具有挑战性的. 这项研究表明,同源变异分析准确地预测了病原性,导致HomolVar网络服务器用于诊断遗传疾病.

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