相关实验视频

Updated: Jun 27, 2025

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

用大型语言模型识别和提取罕见疾病及其表型

Cathy Shyr¹, Yan Hu², Lisa Bastarache¹

¹Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN 37203 USA.

Journal of healthcare informatics research

|April 29, 2024

概括

使用ChatGPT的快速学习对罕见疾病表型有希望,可能会在使用最小数据的情况下超过传统方法. 这种方法可以减少在罕见疾病研究中需要广泛的注释数据集的需求.

科学领域:

计算生物学是一种计算生物学.
医疗信息学医学信息学
自然语言处理自然语言处理.

背景情况:

罕见疾病的诊断和治疗在很大程度上依赖于准确的表型.
疾病表型通常被埋藏在非结构化的临床文本中,这对自动提取具有挑战性.
开发用于罕见疾病的大型注释体是一个重要的瓶.

研究的目的:

这项研究是第一个使用大型语言模型 (LLM) 调查快速学习来识别和提取罕见疾病表型的研究.
这项研究探讨了快速学习在零射击和少数射击环境中的有效性,以确定罕见疾病的表型.

主要方法:

在使用ChatGPT快速学习和使用BioClinicalBERT微调之间进行了比较分析.
为ChatGPT设计了新的提示,以提取罕见疾病,症状和迹象.
为绩效评估建立了一个基准,包括深入的错误分析.

主要成果:

微调的BioClinicalBERT在零射击 (0.472) 和少数射击 (0.610) 设置中,与ChatGPT相比,获得了更高的整体F1得分 (0.689).
在一次性设置中,ChatGPT在罕见疾病和症状方面表现出卓越的准确性 (F1分别为0.778和0.725).
基于句子的对话提示在准确性方面超过了结构化列表.

结论:

使用ChatGPT的快速学习有可能与BioClinicalBERT在提取罕见疾病和症状时使用最小的注释数据的性能相匹配或超过.
聊天GPT的可访问性为罕见疾病表型提供了可行的替代方案,减少了对大型注释体的依赖.
对LLM输出的批判性评估对于确保罕见疾病表型的准确性至关重要.

关键词:

人工智能的人工智能是人工智能.聊天GPT 聊天在GPT 聊天大型语言模型.自然语言处理自然语言处理.快速学习快速学习罕见疾病是一种罕见的疾病.

更多相关视频

In Vivo Modeling of the Morbid Human Genome using Danio rerio

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

相关概念视频

Pleiotropy

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...

Genetic Screens

Genetic Screens

Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...

Incomplete Dominance

Incomplete Dominance

Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.