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Evaluation of<i>in silico tools</i>for variant classification in missense variants of solid cancer with actionable genetic targets

2024-04-22

Abstract excerpt

Advancement in next-generation sequencing technologies has led to a rise in discovery of variants of uncertain significance, which are not clearly categorized as pathogenic or benign. In silico tools, which have been developed to help classify these variants, exhibit variations in outcome. This study aims to evaluate the performance of 6 widely-used in silico tools in predicting the pathogenicity of drug-actionabl...

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Literature Corpus work
718408e6-3d8d-55a9-b17f-91d5f41f54e7
DOI
10.1101/2024.04.22.24306182
Open publication

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Evaluation of<i>in silico tools</i>for variant classification in missense variants of solid cancer with actionable genetic targetsDOI 10.1101/2024.04.22.24306182
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