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Article

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

Genome medicine - 4 Aug 2025

Nazaretyan Lusiné, Rentzsch Philipp, Kircher Martin

Abstract excerpt

BACKGROUND: 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...

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PMID: 40759979
DOI: 10.1186/s13073-025-01517-6
PMCID: PMC12323237

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