Data Party THU

Jul 8, 2026 · Artificial Intelligence

How AI‑CURA Uses Large Language Models to Automate ACMG Variant Classification

AI‑CURA, an LLM‑driven workflow developed by the Hong Kong Genome Institute, automates 13 ACMG rules without literature and leverages DeepSeek‑R1 and o3‑mini‑high to interpret the remaining seven literature‑dependent rules, achieving up to 99.3% diagnostic agreement and markedly speeding rare‑disease genetic analysis.