Article

From Text to Translation: Using Language Models to Prioritize Variants for Clinical Review

2024-12-31

Abstract excerpt

<h4>Backgrounds</h4> Despite rapid advances in genomic sequencing, most rare genetic variants remain insufficiently characterized for clinical use, limiting the potential of personalized medicine. When classifying whether a variant is pathogenic, clinical labs adhere to diagnostic guidelines that comprehensively evaluate many forms of evidence including case data, computational predictions, and functional screeni...

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Literature Corpus work: 9270b179-e1f4-559b-aa11-638d544f19de
DOI: 10.1101/2024.12.31.24319792

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