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We present a new unified graph-based representation of medical data, combining genetic information and medical records of patients with medical knowledge via a unique knowledge graph. This approach allows us to infer meaningful information…

Artificial Intelligence · Computer Science 2024-10-22 Davide Belluomo , Tiziana Calamoneri , Giacomo Paesani , Ivano Salvo

Structured and unstructured data and facts about drugs, genes, protein, viruses, and their mechanism are spread across a huge number of scientific articles. These articles are a large-scale knowledge source and can have a huge impact on…

Artificial Intelligence · Computer Science 2023-02-24 Md. Rezaul Karim , Lina Molinas Comet , Oya Beyan , Dietrich Rebholz-Schuhmann , Stefan Decker

Personalised medicine strives to identify the right treatment for the right patient at the right time, integrating different types of biological and environmental information. Such information come from a variety of sources: omics data…

Applications · Statistics 2014-01-14 Marco Scutari

Patient-Centric Knowledge Graphs (PCKGs) represent an important shift in healthcare that focuses on individualized patient care by mapping the patient's health information in a holistic and multi-dimensional way. PCKGs integrate various…

Medical ontology graphs map external knowledge to medical codes in electronic health records via structured relationships. By leveraging domain-approved connections (e.g., parent-child), predictive models can generate richer medical concept…

Artificial Intelligence · Computer Science 2025-09-01 Mohsen Nayebi Kerdabadi , Arya Hadizadeh Moghaddam , Dongjie Wang , Zijun Yao

We propose a knowledge model for capturing dietary preferences and personal context to provide personalized dietary recommendations. We develop a knowledge model called the Personal Health Ontology, which is grounded in semantic…

Human-Computer Interaction · Computer Science 2021-10-20 Oshani Seneviratne , Jonathan Harris , Ching-Hua Chen , Deborah L. McGuinness

With the rapid advancements in cancer research, the information that is useful for characterizing disease, staging tumors, and creating treatment and survivorship plans has been changing at a pace that creates challenges when physicians try…

Knowledge graphs (KGs) are a popular way to organise information based on ontologies or schemas and have been used across a variety of scenarios from search to recommendation. Despite advances in KGs, representing knowledge remains a…

Artificial Intelligence · Computer Science 2023-10-10 Christos Theodoropoulos , Natasha Mulligan , Thaddeus Stappenbeck , Joao Bettencourt-Silva

Clinical oncology generates vast, unstructured data that often contain inconsistencies, missing information, and ambiguities, making it difficult to extract reliable insights for data-driven decision-making. General-purpose large language…

Computation and Language · Computer Science 2025-03-12 Morteza Rohanian , Tarun Mehra , Nicola Miglino , Farhad Nooralahzadeh , Michael Krauthammer , Andreas Wicki

With the advancement of high-throughput biotechnologies, we increasingly accumulate biomedical data about diseases, especially cancer. There is a need for computational models and methods to sift through, integrate, and extract new…

Quantitative Methods · Quantitative Biology 2020-07-03 Thomas Gaudelet , Noel Malod-Dognin , Natasa Przulj

Biomedical knowledge graphs (KGs) are widely used across research and translational settings, yet their design decisions and implementation are often opaque. Unlike ontologies that more frequently adhere to established creation principles,…

The concept of personalised medicine in cancer therapy is becoming increasingly important. There already exist drugs administered specifically for patients with tumours presenting well-defined mutations. However, the field is still in its…

Biomolecules · Quantitative Biology 2024-08-26 Abbi Abdel-Rehim , Oghenejokpeme Orhobor , Gareth Griffiths , Larisa Soldatova , Ross D. King

Cancer is a complex genetic disease involving uncontrolled cell growth and proliferation, and necessitates effective targeting of dysregulated cellular pathways underlying cancer progression. Multiple genetic and epigenetic alterations…

Other Quantitative Biology · Quantitative Biology 2026-01-28 Manish Kumar

Representation learning on electronic health records (EHRs) plays a vital role in downstream medical prediction tasks. Although natural language processing techniques, such as recurrent neural networks, and self-attention, have been adapted…

Artificial Intelligence · Computer Science 2026-01-12 Xueping Peng , Guodong Long , Tao Shen , Sen Wang , Chengqi Zhang , Allison Clarke , Clement Schlegel

Domain experts often rely on most recent knowledge for apprehending and disseminating specific biological processes that help them design strategies for developing prevention and therapeutic decision-making in various disease scenarios. A…

Computation and Language · Computer Science 2023-11-21 Md. Rezaul Karim , Lina Molinas Comet , Md Shajalal , Oya Deniz Beyan , Dietrich Rebholz-Schuhmann , Stefan Decker

Biomedical researchers use ontologies to annotate their data with ontology terms, enabling better data integration and interoperability. However, the number, variety and complexity of current biomedical ontologies make it cumbersome for…

Artificial Intelligence · Computer Science 2017-06-09 Marcos Martinez-Romero , Clement Jonquet , Martin J. O'Connor , John Graybeal , Alejandro Pazos , Mark A. Musen

In electronic health record (EHR) mining, learning high-quality representations of medical concepts (e.g., standardized diagnosis, medication, and procedure codes) is fundamental for downstream clinical prediction. However, ro bust concept…

Machine Learning · Computer Science 2026-05-05 Mohsen Nayebi Kerdabadi , Arya Hadizadeh Moghaddam , Chen Chen , Dongjie Wang , Zijun Yao

The goal of personalized medicine is to discover a treatment regimen that optimizes a patient's clinical outcome based on their personal genetic and environmental factors. However, candidate treatments cannot be arbitrarily administered to…

Machine Learning · Computer Science 2026-02-09 Michael S. Yao , Osbert Bastani , Alma Andersson , Tommaso Biancalani , Aïcha Bentaieb , Claudia Iriondo

The "RNA world" represents a novel frontier for the study of fundamental biological processes and human diseases and is paving the way for the development of new drugs tailored to the patient's biomolecular characteristics. Although…

While deep learning has achieved great success in many fields, one common criticism about deep learning is its lack of interpretability. In most cases, the hidden units in a deep neural network do not have a clear semantic meaning or…

Genomics · Quantitative Biology 2019-06-04 Tianle Ma , Aidong Zhang
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