Article
AI-CURA, an automated LLM workflow for high-accuracy genetic variant classification.
Science translational medicine - 24 Jun 2026
Ma Wei, Fong Grace, Lai Joe, Wu Heidi, Hue Shirley Pik Ying, Ying Dingge, Chen Lijuan, Tang Wenshu, Preusch Christopher, Chu Annie Tsz Wai, Chung Brian Hon Yin
Abstract excerpt
Large language models (LLMs) have been extensively tested for incorporation into medical applications in recent years; however, their potential in clinical genetics, particularly in diagnosing rare diseases, remains underexplored. Recent advancements in LLMs have improved their reasoning capabilities and transparency, facilitating enhancements in clinical workflow designs. In this study, we developed AI-CURA, a...
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