相关实验视频

Updated: Jan 15, 2026

Augmenting Large Language Models via Vector Embeddings to Improve Domain-Specific Responsiveness

Augmenting Large Language Models via Vector Embeddings to Improve Domain-Specific Responsiveness

Published on: December 6, 2024

大型语言模型在罕见疾病诊断中表现一致,涉及10种语言和4917例病例

Leonardo Chimirri¹, J Harry Caufield², Yasemin Bridges³

¹Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany.

|October 15, 2025

概括

大型语言模型 (LLM) 在罕见疾病的十种语言中显示出差异诊断的一致性能. 这表明,LLM可以在全球范围内支持临床决策,克服医疗保健中的语言障碍.

科学领域:

医疗信息学医疗信息学
人工智能在医学中的应用
基因组学就是基因组学.

背景情况:

大型语言模型 (LLM) 越来越多地用于医疗应用,包括差异诊断.
目前的LLM主要以英语文本进行培训,这限制了其全球适用性.
需要对非英语语言的LLM绩效进行大规模评估,以诊断罕见疾病.

研究的目的:

评估跨多种语言的LLMs的差异诊断性能.
为了比较GPT-4o和Meditron3-70B在诊断罕见疾病中的性能.
在全球范围内评估语言对LLM诊断准确性的影响.

主要方法:

通过使用人类表型本体学 (HPO) 术语和Phenopacket Schema生成了4917个临床细节.
在10种语言 (英语,中文,捷克语,荷兰语,法语,德语,意大利语,日语,西班牙语,土耳其语) 使用翻译的HPO术语创建提示.
应用了GPT-4o和Meditron3-70B,使用零射击提示进行差异诊断,以本体学为基础的评估.

主要成果:

在英语病例中,GPT-4o在27.0%的病例中获得了前三名的诊断,在非英语病例中获得了25.4%-28.6%.
在英语病例中,Meditron3-70B在20.9%的病例中获得了前三名的诊断,在非英语病例中获得了19.9%-24.0%的诊断.
两种模型的十种测试语言的差异诊断性能在很大程度上是一致的.

结论:

在罕见疾病的差异诊断中,LLM的表现在英语和其他9种语言中是一致的.
在非英语临床环境中,LLM显示出潜在的实用性,这表明它具有更广泛的全球适用性.
这项研究支持在英语地区以外扩展基于LLM的诊断工具.

关键词:

人工智能的人工智能是人工智能.基因组诊断基因组诊断基因组诊断全球基因组学与健康联盟人类现象型的本体学.大型语言模型.现象包 (Phenopacket) 的模式是

更多相关视频

Constructing and Visualizing Models using Mime-based Machine-learning Framework

Constructing and Visualizing Models using Mime-based Machine-learning Framework

Published on: July 22, 2025

Asthma Detection Research Based on Voice Signal Processing and Machine Learning

Asthma Detection Research Based on Voice Signal Processing and Machine Learning

Published on: July 22, 2025

相关概念视频

Improving Translational Accuracy

Improving Translational Accuracy

Improving Translational Accuracy

Improving Translational Accuracy

Base complementarity between the three base pairs of mRNA codon and the tRNA anticodon is not a failsafe mechanism. Inaccuracies can range from a single mismatch to no correct base pairing at all. The free energy difference between the correct and nearly correct base pairs can be as small as 3 kcal/ mol. With complementarity being the only proofreading step, the estimated error frequency would be one wrong amino acid in every 100 amino acids incorporated. However, error frequencies observed in...

Classification of Illness

Classification of Illness

The meaning of illness is individualized to each person who experiences an alteration in health. In contrast, disease is a medical term indicating a pathological change in the structure and function of the body or mind. It is a condition that has specific symptoms and boundaries.
An illness is a response to a disease in which the person's level of functioning is changed compared with a previous level. The general classification of illness includes acute and chronic.
Acute illness is severe...

Language and Cognition

Language and Cognition

Language serves as a bridge between ideas and communication, influencing how individuals perceive and interact with the world. Psychologists have long debated whether language shapes thought or vice versa. This discussion gained grip with Edward Sapir and Benjamin Lee Whorf in the 1940s, who proposed that language determines thought, a concept known as linguistic determinism. They suggested that the vocabulary and structure of a language influence how its speakers think and perceive reality.