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Article

Assessing the performance of 28 pathogenicity prediction methods on rare single nucleotide variants in coding regions.

BMC genomics - 7 Jul 2025

Heo Jee Yeon, Kim Ju Han

Abstract excerpt

BACKGROUND: Accurate pathogenicity prediction of rare variants in coding regions is crucial for prioritizing candidate variants in human diseases and advancing personalized precision medicine. Although many prediction methods have been developed, it remains unclear how they perform specifically on rare variants. RESULTS: In this study, the performance of 28 pathogenicity prediction methods was assessed using the...

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PMID: 40624478
DOI: 10.1186/s12864-025-11787-4
PMCID: PMC12235850

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