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Large language models (LLMs) have demonstrated impressive capabilities in disease diagnosis. However, their effectiveness in identifying rarer diseases, which are inherently more challenging to diagnose, remains an open question. Rare…

Computation and Language · Computer Science 2025-02-24 Elliot Schumacher , Dhruv Naik , Anitha Kannan

We present an advanced approach to medical question-answering (QA) services, using fine-tuned Large Language Models (LLMs) to improve the accuracy and reliability of healthcare information. Our study focuses on optimizing models like…

Computation and Language · Computer Science 2024-10-22 Ali Anaissi , Ali Braytee , Junaid Akram

Recent advances in artificial intelligence, particularly large language models LLMs, have shown promising capabilities in transforming rare disease research. This survey paper explores the integration of LLMs in the analysis of rare…

Computation and Language · Computer Science 2025-05-26 Valentina Carbonari , Pierangelo Veltri , Pietro Hiram Guzzi

In recent years, Large Language Models (LLMs) have demonstrated an impressive ability to encode knowledge during pre-training on large text corpora. They can leverage this knowledge for downstream tasks like question answering (QA), even in…

Computation and Language · Computer Science 2024-06-11 Juraj Vladika , Phillip Schneider , Florian Matthes

Large language models (LLMs) have demonstrated capabilities across diverse domains, yet their performance on rare disease diagnosis from narrative medical cases remains underexplored. We introduce a novel dataset of 176 symptom-diagnosis…

Computation and Language · Computer Science 2025-11-17 Arsh Gupta , Ajay Narayanan Sridhar , Bonam Mingole , Amulya Yadav

Despite rare diseases affecting 1 in 10 Americans, their differential diagnosis remains challenging. Due to their impressive recall abilities, large language models (LLMs) have been recently explored for differential diagnosis. Existing…

Artificial Intelligence · Computer Science 2026-01-21 Zilal Eiz AlDin , John Wu , Jeffrey Paul Fung , Jennifer King , Mya Watts , Lauren ONeill , Adam Richard Cross , Jimeng Sun

Rare diseases affect hundreds of millions worldwide, yet diagnosis often spans years. Convectional pipelines decouple noisy evidence extraction from downstream inferential diagnosis, and general/medical large language models (LLMs) face…

Medical question-answering (QA) systems can benefit from advances in large language models (LLMs), but directly applying LLMs to the clinical domain poses challenges such as maintaining factual accuracy and avoiding hallucinations. In this…

Computation and Language · Computer Science 2025-12-08 Tasnimul Hassan , Md Faisal Karim , Haziq Jeelani , Elham Behnam , Robert Green , Fayeq Jeelani Syed

Large Language Models (LLMs) hold promise in addressing complex medical problems. However, while most prior studies focus on improving accuracy and reasoning abilities, a significant bottleneck in developing effective healthcare agents lies…

Computation and Language · Computer Science 2025-10-06 Weikang Qiu , Tinglin Huang , Ryan Rullo , Yucheng Kuang , Ali Maatouk , S. Raquel Ramos , Rex Ying

Large Language Models (LLMs) have demonstrated impressive capabilities across natural language processing tasks. However, their application to specialized domains such as medicine and biology requires further optimization to ensure factual…

Computation and Language · Computer Science 2025-02-06 Seonok Kim

Accurate and efficient question-answering systems are essential for delivering high-quality patient care in the medical field. While Large Language Models (LLMs) have made remarkable strides across various domains, they continue to face…

Computation and Language · Computer Science 2025-01-22 Hang Yang , Hao Chen , Hui Guo , Yineng Chen , Ching-Sheng Lin , Shu Hu , Jinrong Hu , Xi Wu , Xin Wang

This study applies Large Language Models (LLMs) to two foundational Electronic Health Record (EHR) data science tasks: structured data querying (using programmatic languages, Python/Pandas) and information extraction from unstructured…

Computation and Language · Computer Science 2026-01-29 Juan Jose Rubio Jan , Jack Wu , Julia Ive

Doctors and patients alike increasingly use Large Language Models (LLMs) to diagnose clinical cases. However, unlike domains such as math or coding, where correctness can be objectively defined by the final answer, medical diagnosis…

Computation and Language · Computer Science 2025-05-21 Kevin Wu , Eric Wu , Rahul Thapa , Kevin Wei , Angela Zhang , Arvind Suresh , Jacqueline J. Tao , Min Woo Sun , Alejandro Lozano , James Zou

There is vivid research on adapting Large Language Models (LLMs) to perform a variety of tasks in high-stakes domains such as healthcare. Despite their popularity, there is a lack of understanding of the extent and contributing factors that…

Computation and Language · Computer Science 2024-06-07 Anand Subramanian , Viktor Schlegel , Abhinav Ramesh Kashyap , Thanh-Tung Nguyen , Vijay Prakash Dwivedi , Stefan Winkler

This paper introduces a system that integrates large language models (LLMs) into the clinical trial retrieval process, enhancing the effectiveness of matching patients with eligible trials while maintaining information privacy and allowing…

Information Retrieval · Computer Science 2024-11-01 Georgios Peikos , Pranav Kasela , Gabriella Pasi

Effective patient care in digital healthcare requires large language models (LLMs) that not only answer questions but also actively gather critical information through well-crafted inquiries. This paper introduces HealthQ, a novel framework…

Computation and Language · Computer Science 2025-02-26 Ziyu Wang , Hao Li , Di Huang , Hye-Sung Kim , Chae-Won Shin , Amir M. Rahmani

In this article, we evaluate four Large Language Models (LLMs) and their effectiveness at retrieving data within a specialized Retrieval-Augmented Generation (RAG) system, using a comprehensive food composition database. Our method is…

Computation and Language · Computer Science 2026-03-12 Maks Požarnik Vavken , Matevž Ogrinc , Tome Eftimov , Barbara Koroušić Seljak

Although rare diseases are characterized by low prevalence, approximately 300 million people are affected by a rare disease. The early and accurate diagnosis of these conditions is a major challenge for general practitioners, who do not…

Computation and Language · Computer Science 2021-11-12 Isabel Segura-Bedmar , David Camino-Perdonas , Sara Guerrero-Aspizua

In recent years, large language models (LLMs) have demonstrated significant potential across various natural language processing (NLP) tasks. However, their performance in domain-specific applications and non-English languages remains less…

Computation and Language · Computer Science 2025-10-01 Dragos-Dumitru Ghinea , Adela-Nicoleta Corbeanu , Adrian-Marius Dumitran

The recently unprecedented advancements in Large Language Models (LLMs) have propelled the medical community by establishing advanced medical-domain models. However, due to the limited collection of medical datasets, there are only a few…

Computation and Language · Computer Science 2024-06-10 Ping Yu , Kaitao Song , Fengchen He , Ming Chen , Jianfeng Lu
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