ArticleJournal of human genetics2025
Assessment of ability of a DNA language model to predict pathogenicity of rare coding variants.
Article in Journal of human genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
1 citing paper in PubMed.
- Investigation of the Effects of NoncodingHuman heredity · 2026Article
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1 author.
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Abstract
A recently described method to predict pathogenicity of DNA variants uses a DNA language model and can be applied to both coding and non-coding variants. For coding variants the performance of this method, termed GPN-MSA (genomic pretrained network with multiple-sequence alignment), was reported to be superior to CADD. We compare the performance of this method against 45 other predictors applied to rare coding variants in 18 gene-phenotype pairs. We find that while GPN-MSA produces stronger evidence for association than CADD it is not the best-performing method for any gene and on average other prediction methods are superior. While GPN-MSA may be useful for predicting the pathogenicity of non-coding variants, it would seem sensible for clinicians and researchers to utilise other methods when dealing with coding variants.This research has been conducted using the UK Biobank Resource.
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