Article

Assessment of variant effect predictors unveils variants difficulty as a critical performance indicator

2024-07-09

Abstract excerpt

Amino acid substitutions in protein sequences are generally harmless, but a certain number of these changes can lead to disease. Accurate prediction of the impact of genetic variants is crucial for clinicians as it accelerates the diagnosis of patients with missense variants associated with health issues. Numerous computational tools have been developed for prediction of the pathogenicity of genetic variants based...

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Literature Corpus work: bbde8786-c9c5-5dad-8634-d77f261395bd
DOI: 10.1101/2024.07.08.602580

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