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Advancing Clinical Genomic Analysis with a Skill-Centred Agent

[Sztuczna inteligencja] Autorzy: Qiaoyu Zheng, Weike Zhao, Yanjie Fan i 10 więcej

Clinical genomic analysis requires experts to integrate evolving guidelines, databases, and computational evidence. As sequencing has become increasingly accessible, this complex and labor-intensive process has become a major bottleneck to the timely use of genomic information in clinical decision-making. To fill this gap, we developed ClinGeX, a large-language-model agent that composes 105 curated executable skills through task-specific retrieval and dependency-aware orchestration. On 223 temporally held-out benchmark cases, ClinGeX achieved 71.7\% macro-averaged task-level concordance with expert reference classifications, compared with 45.7\% for the strongest comparator. In a three-condition, counterbalanced human-AI collaboration study, 45 clinical genomic professionals assessed 135 clinically derived cases under routine (no AI assistance), DeepSeek-assisted and ClinGeX-assisted co…

Kategoria arxiv
cs.AI
Kategoria
Sztuczna inteligencja
Pdf
https://arxiv.org/pdf/2610.40556v1

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