Article

The impact of systematized generation, evaluation, and incorporation of machine learning algorithms for clinical variant classification

2025-02-06

Abstract excerpt

<h4>Summary</h4> Variants of uncertain significance (VUS) pose a significant challenge for those undergoing genetic testing, leading to prolonged uncertainty and inappropriate medical care. VUS rate reduction is critical to fully realize the utility of genetic testing for all populations. With the growth of large-scale biological data sources and modern Machine Learning (ML) techniques, predictive modeling has eno...

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Literature Corpus work: 1c8814ee-77b6-5b3d-be79-b97460259c86
DOI: 10.1101/2025.02.03.25321356

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