Article

varCADD: large sets of standing genetic variation enable genome-wide pathogenicity prediction

2024-09-25

Abstract excerpt

Machine learning and artificial intelligence are increasingly being applied to identify phenotypically causal genetic variation. These data-driven methods require comprehensive training sets to deliver reliable results. However, large unbiased datasets for variant prioritization and effect predictions are rare as most of the available databases do not represent a broad ensemble of variant effects and are often bia...

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Literature Corpus work: 1da143c6-0cf6-5f4e-9d13-d6e0860289c1
DOI: 10.1101/2024.09.24.614666

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