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Biomedical Engineering and Bioengineering Commons

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Bioinformatics

The British University in Egypt

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Integrated Rules Classifier For Predicting Pathogenic Non-Synonymous Single Nucleotide Variants In Human, Ahmed Barakat Hosseny, Marwa Said Hassan, A A. Shalan, Shymaa Khamis, M I. Dessouky Jan 2024

Integrated Rules Classifier For Predicting Pathogenic Non-Synonymous Single Nucleotide Variants In Human, Ahmed Barakat Hosseny, Marwa Said Hassan, A A. Shalan, Shymaa Khamis, M I. Dessouky

Basic Science Engineering

The most prevalent kind of genetic variants in humans are non-synonymous single nucleotide variants (nsSNVs). Several prediction tools have been launched to forecast the effect of amino acid substitutes on human protein function. These tools sort variants as pathogenic or neutral. We developed an Integrated Rules Classifier (Integration Score through JRip “ISTJRip”), which integrates the four individual tools that are publicly available; iFish, Mutation Assessor, FATHMM, and SIFT-based on the JRip machine learning technique. Additionally, we compared the ISTJRip approach with the other three created integration classifiers; Integration Score through J48 “ISTJ48”, Integration Score through RF “ISTRF”, and Integration …