Article

Genomic heterogeneity inflates the performance of variant pathogenicity predictions

2025-09-08

Abstract excerpt

Recent studies have reported unprecedented accuracy predicting pathogenic variants across the genome, including in noncoding regions, using large AI models trained on vast genomic data. We present a comprehensive evaluation of these frontier models, showing that performance is inflated by differences in the prevalence of pathogenic variants across genomic contexts. We identify the best-performing models for each v...

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Literature Corpus work: 26a308e5-5eaf-510b-a6a7-bd663895d687
DOI: 10.1101/2025.09.05.674459

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