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QAFI: A Novel Method for Quantitative Estimation of Missense Variant Impact Using Protein-Specific Predictors and Ensemble Learning

2024-05-08

Abstract excerpt

<title>Abstract</title> <p>Next-generation sequencing (NGS) has revolutionized genetic diagnostics, yet its application in precision medicine remains incomplete, despite significant advances in computational tools for variant annotation. Many variants remain unannotated, and existing tools often fail to accurately predict the range of impacts that variants have on protein function. This limitation restricts their...

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Literature Corpus work: 9f74ea06-e1da-559b-a6f6-55e3d2cca03a
DOI: 10.21203/rs.3.rs-4348948/v1

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