相关论文: An evaluation of GPT models for phenotype concept …

Phenotype-driven gene prioritization is a critical process in the diagnosis of rare genetic disorders for identifying and ranking potential disease-causing genes based on observed physical traits or phenotypes. While traditional approaches…

We hypothesize that large language models (LLMs) based on the transformer architecture can enable automated detection of clinical phenotype terms, including terms not documented in the HPO. In this study, we developed two types of models:…

High-throughput phenotyping, the automated mapping of patient signs and symptoms to standardized ontology concepts, is essential to gaining value from electronic health records (EHR) in the support of precision medicine. Despite…

Rare diseases (RDs) are collectively common and affect 300 million people worldwide. Accurate phenotyping is critical for informing diagnosis and treatment, but RD phenotypes are often embedded in unstructured text and time-consuming to…

Objective: We investigate whether deep learning techniques for natural language processing (NLP) can be used efficiently for patient phenotyping. Patient phenotyping is a classification task for determining whether a patient has a medical…

Work done to uncover the knowledge encoded within pre-trained language models rely on annotated corpora or human-in-the-loop methods. However, these approaches are limited in terms of scalability and the scope of interpretation. We propose…

Pre-trained large language models(LLMs) have attracted increasing attention in biomedical domains due to their success in natural language processing. However, the complex traits and heterogeneity of multi-sources genomics data pose…

Objective: This study quantifies the capabilities of GPT-3.5 and GPT-4 for clinical named entity recognition (NER) tasks and proposes task-specific prompts to improve their performance. Materials and Methods: We evaluated these models on…

Although supervised machine learning is popular for information extraction from clinical notes, creating large annotated datasets requires extensive domain expertise and is time-consuming. Meanwhile, large language models (LLMs) have…

Computational text phenotyping is the practice of identifying patients with certain disorders and traits from clinical notes. Rare diseases are challenging to be identified due to few cases available for machine learning and the need for…

Named entity recognition (NER) is a fundamental task in numerous downstream applications. Recently, researchers have employed pre-trained language models (PLMs) and large language models (LLMs) to address this task. However, fully…

This study investigates the capabilities of large language models (LLMs), specifically ChatGPT, in annotating MT outputs based on an error typology. In contrast to previous work focusing mainly on general language, we explore ChatGPT's…

Objective: Clinical trials are essential for advancing pharmaceutical interventions, but they face a bottleneck in selecting eligible participants. Although leveraging electronic health records (EHR) for recruitment has gained popularity,…

In support of open and reproducible research, there has been a rapidly increasing number of datasets made available for research. As the availability of datasets increases, it becomes more important to have quality metadata for discovering…

Computational phenotyping is essential for biomedical research but often requires significant time and resources, especially since traditional methods typically involve extensive manual data review. While machine learning and natural…

Objective To solve major clinical natural language processing (NLP) tasks using a unified text-to-text learning architecture based on a generative large language model (LLM) via prompt tuning. Methods We formulated 7 key clinical NLP tasks…

High-throughput phenotyping automates the mapping of patient signs to standardized ontology concepts and is essential for precision medicine. This study evaluates the automation of phenotyping of clinical summaries from the Online Mendelian…

The field of healthcare has increasingly turned its focus towards Large Language Models (LLMs) due to their remarkable performance. However, their performance in actual clinical applications has been underexplored. Traditional evaluations…

Generative Large Language Models (gLLMs), such as ChatGPT, are increasingly being used in communication research for content analysis. Studies show that gLLMs can outperform both crowd workers and trained coders, such as research…

Recent work has demonstrated substantial gains on many NLP tasks and benchmarks by pre-training on a large corpus of text followed by fine-tuning on a specific task. While typically task-agnostic in architecture, this method still requires…