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Related papers: Ontology-Driven and Weakly Supervised Rare Disease…

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Identifying disease phenotypes from electronic health records (EHRs) is critical for numerous secondary uses. Manually encoding physician knowledge into rules is particularly challenging for rare diseases due to inadequate EHR coding,…

Fine-grained entity typing (FET), which assigns entities in text with context-sensitive, fine-grained semantic types, is a basic but important task for knowledge extraction from unstructured text. FET has been studied extensively in natural…

Computation and Language · Computer Science 2024-06-12 Tanay Komarlu , Minhao Jiang , Xuan Wang , Jiawei Han

In this paper, we discuss the utility and deficiencies of existing ontology resources for a number of language processing applications. We describe a technique for increasing the semantic type coverage of a specific ontology, the National…

Computation and Language · Computer Science 2007-05-23 J. Pustejovsky , A. Rumshisky , J. Castano

Weakly supervised nuclei segmentation is a critical problem for pathological image analysis and greatly benefits the community due to the significant reduction of labeling cost. Adopting point annotations, previous methods mostly rely on…

Image and Video Processing · Electrical Eng. & Systems 2022-02-14 Weizhen Liu , Qian He , Xuming He

Most existing medication recommendation models learn representations for medical concepts based on electronic health records (EHRs) and make recommendations with learnt representations. However, most medications appear in the dataset for…

Machine Learning · Computer Science 2024-02-16 Weicong Tan , Weiqing Wang , Xin Zhou , Wray Buntine , Gordon Bingham , Hongzhi Yin

Current state-of-the-art methods for object detection rely on annotated bounding boxes of large data sets for training. However, obtaining such annotations is expensive and can require up to hundreds of hours of manual labor. This poses a…

Computer Vision and Pattern Recognition · Computer Science 2025-08-04 Hannah Kniesel , Leon Sick , Tristan Payer , Tim Bergner , Kavitha Shaga Devan , Clarissa Read , Paul Walther , Timo Ropinski

Information extraction from narrative clinical notes is useful for patient care, as well as for secondary use of medical data, for research or clinical purposes. Many studies focused on information extraction from English clinical texts,…

Computation and Language · Computer Science 2021-04-05 Emma Chiaramello , Francesco Pinciroli , Alberico Bonalumi , Angelo Caroli , Gabriella Tognola

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…

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

To efficiently establish training databases for machine learning methods, collaborative and crowdsourcing platforms have been investigated to collectively tackle the annotation effort. However, when this concept is ported to the medical…

Computer Vision and Pattern Recognition · Computer Science 2017-08-22 Martin Rajchl , Lisa M. Koch , Christian Ledig , Jonathan Passerat-Palmbach , Kazunari Misawa , Kensaku Mori , Daniel Rueckert

Medical image annotation is a major hurdle for developing precise and robust machine learning models. Annotation is expensive, time-consuming, and often requires expert knowledge, particularly in the medical field. Here, we suggest using…

Computer Vision and Pattern Recognition · Computer Science 2020-09-28 Holger R Roth , Dong Yang , Ziyue Xu , Xiaosong Wang , Daguang Xu

Millions of patients suffer from rare diseases around the world. However, the samples of rare diseases are much smaller than those of common diseases. In addition, due to the sensitivity of medical data, hospitals are usually reluctant to…

Machine Learning · Computer Science 2021-12-30 Bingyang Chen , Tao Chen , Xingjie Zeng , Weishan Zhang , Qinghua Lu , Zhaoxiang Hou , Jiehan Zhou , Sumi Helal

Previous work on clinical relation extraction from free-text sentences leveraged information about semantic types from clinical knowledge bases as a part of entity representations. In this paper, we exploit additional evidence by also…

Computation and Language · Computer Science 2025-03-10 Linh Le , Guido Zuccon , Gianluca Demartini , Genghong Zhao , Xia Zhang

This paper addresses the challenge of improving information retrieval from semi-structured eXtensible Markup Language (XML) documents. Traditional information retrieval systems (IRS) often overlook user-specific needs and return identical…

Information Retrieval · Computer Science 2026-03-24 Ounnaci Iddir , Ahmed-ouamer Rachid , Tai Dinh

Medical professionals frequently work in a data constrained setting to provide insights across a unique demographic. A few medical observations, for instance, informs the diagnosis and treatment of a patient. This suggests a unique setting…

Computation and Language · Computer Science 2022-12-06 Pankaj Sharma , Imran Qureshi , Minh Tran

Electronic Health Records are electronic data generated during or as a byproduct of routine patient care. Structured, semi-structured and unstructured EHR offer researchers unprecedented phenotypic breadth and depth and have the potential…

Artificial Intelligence · Computer Science 2017-07-26 Vaclav Papez , Spiros Denaxas , Harry Hemingway

The unstructured nature of clinical notes within electronic health records often conceals vital patient-related information, making it challenging to access or interpret. To uncover this hidden information, specialized Natural Language…

The extraction of relevant data from Electronic Health Records (EHRs) is crucial to identifying symptoms and automating epidemiological surveillance processes. By harnessing the vast amount of unstructured text in EHRs, we can detect…

Computation and Language · Computer Science 2025-02-10 Juliano Genari , Guilherme Tegoni Goedert

Large Language Models (LLMs) have revolutionized various sectors, including healthcare where they are employed in diverse applications. Their utility is particularly significant in the context of rare diseases, where data scarcity,…

Computation and Language · Computer Science 2024-08-20 Qiuhao Lu , Rui Li , Andrew Wen , Jinlian Wang , Liwei Wang , Hongfang Liu

Phenotyping consists in applying algorithms to identify individuals associated with a specific, potentially complex, trait or condition, typically out of a collection of Electronic Health Records (EHRs). Because a lot of the clinical…