Article

Combination of Expert Guidelines-based and Machine Learning-based Approaches Leads to Superior Accuracy of Automated Prediction of Clinical Effect of Copy Number Variations

2022-12-23

Abstract excerpt

Clinical interpretation of copy number variants (CNVs) is a complex process that requires skilled clinical professionals. General recommendations have been recently released to guide the CNV interpretation based on predefined criteria to uniform the decision process. Several semiautomatic computational methods have been proposed to recommend appropriate choices, relieving the clinicians from the tedious search in...

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Literature Corpus work: 017f62d6-b95d-5cb0-b6c1-291a16378709
DOI: 10.1101/2022.12.23.521405

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