Article

DeepSeek as the paradigm shift in rare disease diagnosis – the power of a fully automated genetic variant classification system

2025-06-04

Abstract excerpt

Large language models (LLMs) have been extensively tested for incorporating into medical applications in recent years, yet their potential in clinical genetics, particularly in diagnosing rare diseases, remains underexplored. Recent advancements in LLMs have improved their reasoning capabilities and transparency, facilitating significant enhancements in clinical workflow designs. The open-sourced DeepSeek model al...

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Literature Corpus work: 0fa96801-bd5c-5799-923b-dc4b73d5fb80
DOI: 10.1101/2025.06.03.25328923

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