Article

MobiDeep: an AI-based meta-score for scoring non-coding DNA variations

2026-03-11

Abstract excerpt

<title>Abstract</title> <p>Background The interpretation of non-coding variants (NCVs) from genome sequencing represents a major bottleneck in the diagnosis of rare diseases. Existing variant effect predictors (VEPs) show variable performance across different genomic contexts, and a lack of region-specific clinical guidance hinders accurate variant prioritization. This study aimed to rigorously benchmark state-o...

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Literature Corpus work: a9ece5e9-22d6-5016-bf3d-fb488991a683
DOI: 10.21203/rs.3.rs-8823759/v1

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