Article

Large Language Model as a Promising Framework for the Complete Clinical Interpretation of Human Genetic Variants

2026-05-11

Abstract excerpt

The number of human genetic variants cataloged in dbSNP has plateaued since 2021, with over ~1.1 billion variants housed. Since the human pangenome reference has enabled the precise identification of even structurally complex variants, capturing the entire spectrum of human genetic variants is almost achievable. However, the clinical impacts of most genetic variants still remain elusive. This is due to limitations...

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Literature Corpus work: 2f761694-decb-5ea4-969b-fec25e180339
DOI: 10.20944/preprints202605.0651.v1

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