Article

A fine-tuned genomic language model captures nucleotide-level information overlooked by missense variant impact predictors

2026-05-11

Abstract excerpt

Missense variant interpretation remains a major challenge in clinical genomics. Existing missense variant impact predictors achieve strong performance, but they emphasize protein-level consequences and often share overlapping annotation priors. A missense annotation specifies the encoded amino-acid substitution, but the underlying nucleotide change may also act through nucleotide sequence context that protein-cent...

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Literature Corpus work: 6cf2e43b-c570-5821-81d0-e60288cbc2e7
DOI: 10.64898/2026.05.06.723362

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