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Rare diseases affect millions worldwide but often face limited research focus due to their low prevalence. This results in prolonged diagnoses and a lack of approved therapies. Recent advancements in Large Language Models (LLMs) have shown…

Computation and Language · Computer Science 2024-10-28 Lang Cao , Jimeng Sun , Adam Cross

With the exponential increase in online scientific literature, identifying reliable domain-specific data has become increasingly important but also very challenging. Manual data collection and filtering for domain-specific scientific…

Information Retrieval · Computer Science 2026-03-10 Nikita Gautam , Doina Caragea , Ignacio Ciampitti , Federico Gomez

Natural language processing (NLP) is a key technology to extract important patient information from clinical narratives to support healthcare applications. The rapid development of large language models (LLMs) has revolutionized many NLP…

Computation and Language · Computer Science 2025-09-08 Cheng Peng , Xinyu Dong , Mengxian Lyu , Daniel Paredes , Yaoyun Zhang , Yonghui Wu

Purpose: Large Language Models (LLMs) hold significant promise for medical applications. Retrieval Augmented Generation (RAG) emerges as a promising approach for customizing domain knowledge in LLMs. This case study presents the development…

The high incidence and mortality rates associated with respiratory diseases underscores the importance of early screening. Machine learning models can automate clinical consultations and auscultation, offering vital support in this area.…

Machine Learning · Computer Science 2024-10-10 Yuwei Zhang , Tong Xia , Aaqib Saeed , Cecilia Mascolo

Rapid integration of large language models (LLMs) in health care is sparking global discussion about their potential to revolutionize health care quality and accessibility. At a time when improving health care quality and access remains a…

Computers and Society · Computer Science 2025-04-01 Troy Zada , Natalie Tam , Francois Barnard , Marlize Van Sittert , Venkat Bhat , Sirisha Rambhatla

Rare diseases, despite their low individual incidence, collectively impact around 300 million people worldwide due to the vast number of diseases. The involvement of multiple organs and systems, and the shortage of specialized doctors with…

Computation and Language · Computer Science 2025-11-11 Xuanzhong Chen , Ye Jin , Xiaohao Mao , Lun Wang , Shuyang Zhang , Ting Chen

Objective: To demonstrate the capabilities of Large Language Models (LLMs) as autonomous agents to reproduce findings of published research studies using the same or similar dataset. Materials and Methods: We used the "Quick Access" dataset…

Computation and Language · Computer Science 2025-06-02 Nic Dobbins , Christelle Xiong , Kristine Lan , Meliha Yetisgen

Although large language models (LLMs) have demonstrated impressive reasoning capabilities across general domains, their effectiveness in real-world clinical practice remains limited. This is likely due to their insufficient exposure to…

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…

Quantitative Methods · Quantitative Biology 2024-04-04 Junyoung Kim , Jingye Yang , Kai Wang , Chunhua Weng , Cong Liu

Despite the impressive capabilities of large language models (LLMs), their performance on information extraction tasks is still not entirely satisfactory. However, their remarkable rewriting capabilities and extensive world knowledge offer…

Computation and Language · Computer Science 2024-02-23 Junjie Ye , Nuo Xu , Yikun Wang , Jie Zhou , Qi Zhang , Tao Gui , Xuanjing Huang

Large Language Models (LLMs) are trained on vast amounts of data, most of which is automatically scraped from the internet. This data includes encyclopedic documents that harbor a vast amount of general knowledge (e.g., Wikipedia) but also…

This paper introduces an approach that combines the language reasoning capabilities of large language models (LLMs) with the benefits of local training to tackle complex, domain-specific tasks. Specifically, the authors demonstrate their…

Computation and Language · Computer Science 2023-08-04 V. K. Cody Bumgardner , Aaron Mullen , Sam Armstrong , Caylin Hickey , Jeff Talbert

Large language models (LLMs) often generate outdated or inaccurate information based on static training datasets. Retrieval-augmented generation (RAG) mitigates this by integrating outside data sources. While previous RAG systems used…

Medical problem-solving demands expert knowledge and intricate reasoning. Recent studies of large language models (LLMs) attempt to ease this complexity by introducing external knowledge verification through retrieval-augmented generation…

Computation and Language · Computer Science 2026-01-19 Yue Huang , Yanyuan Chen , Dexuan Xu , Chenzhuo Zhao , Weihua Yue , Yu Huang

Multilingual pre-trained Large Language Models (LLMs) are incredibly effective at Question Answering (QA), a core task in Natural Language Understanding, achieving high accuracies on several multilingual benchmarks. However, little is known…

Computation and Language · Computer Science 2024-04-16 Yahan Yang , Soham Dan , Dan Roth , Insup Lee

Medical image segmentation is crucial for clinical diagnosis, yet existing models are limited by their reliance on explicit human instructions and lack the active reasoning capabilities to understand complex clinical questions. While recent…

Computer Vision and Pattern Recognition · Computer Science 2025-06-13 Yu Huang , Zelin Peng , Yichen Zhao , Piao Yang , Xiaokang Yang , Wei Shen

Large language models (LLMs) have demonstrated immense capabilities in understanding textual data and are increasingly being adopted to help researchers accelerate scientific discovery through knowledge extraction (information retrieval),…

Computer Vision and Pattern Recognition · Computer Science 2025-05-30 Robinson Umeike , Neil Getty , Fangfang Xia , Rick Stevens

Large language models (LLMs) excel on many NLP benchmarks, but their behavior on real-world, semi-structured prediction remains underexplored. We present LlaMADRS, a benchmark for structured clinical assessment from dialogue built on the…

Human-Computer Interaction · Computer Science 2026-04-23 Gaoussou Youssouf Kebe , Jeffrey M. Girard , Einat Liebenthal , Justin Baker , Fernando De la Torre , Louis-Philippe Morency

Qualitative data collection and analysis approaches, such as those employing interviews and focus groups, provide rich insights into customer attitudes, sentiment, and behavior. However, manually analyzing qualitative data requires…

Computers and Society · Computer Science 2024-08-21 Sreyoshi Bhaduri , Satya Kapoor , Alex Gil , Anshul Mittal , Rutu Mulkar