Article

SNPred outperforms other ensemble-based SNV pathogenicity predictors and elucidates the challenges of using ClinVar for evaluation of variant classification quality

2023-09-08

Abstract excerpt

<h4>Background</h4> Current single nucleotide variants (SNVs) pathogenicity prediction tools assess various properties of genetic variants and provide a likelihood of causing a disease. This information aids in variant prioritization – the process of narrowing down the list of potential pathogenic variants, and, therefore, facilitating diagnostics. Assessing the effectiveness of SNV pathogenicity tools using ClinV...

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Literature Corpus work: 3f0f78b9-ac0f-5bde-aab1-665363e5abcc
DOI: 10.1101/2023.09.07.23295192

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