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In rare disease physician targeting, a major challenge is how to identify physicians who are treating diagnosed or underdiagnosed rare diseases patients. Rare diseases have extremely low incidence rate. For a specified rare disease, only a…

Machine Learning · Statistics 2017-01-23 Yong Cai , Yunlong Wang , Dong Dai

The use of networks to integrate different genetic, proteomic, and metabolic datasets has been proposed as a viable path toward elucidating the origins of specific diseases. Here we introduce a new phenotypic database summarizing…

Biological Physics · Physics 2015-05-14 Cesar A. Hidalgo , Nicholas Blumm , Albert-Laszlo Barabasi , Nicholas Christakis

The paper utilizes the graph embeddings generated for entities of a large biomedical database to perform link prediction to capture various new relationships among different entities. A novel node similarity measure is proposed that…

Information Retrieval · Computer Science 2021-11-01 Prakhar Gurawa , Matthias Nickles

Identification of plant disease is usually done through visual inspection or during laboratory examination which causes delays resulting in yield loss by the time identification is complete. On the other hand, complex deep learning models…

Computer Vision and Pattern Recognition · Computer Science 2021-02-10 Nisar Ahmed , Hafiz Muhammad Shahzad Asif , Gulshan Saleem

Knowledge Graphs have been one of the fundamental methods for integrating heterogeneous data sources. Integrating heterogeneous data sources is crucial, especially in the biomedical domain, where central data-driven tasks such as drug…

Machine Learning · Computer Science 2020-12-22 Islam Akef Ebeid , Majdi Hassan , Tingyi Wanyan , Jack Roper , Abhik Seal , Ying Ding

The effective extraction of ranked disease-symptom relationships is a critical component in various medical tasks, including computer-assisted medical diagnosis or the discovery of unexpected associations between diseases. While existing…

Information Retrieval · Computer Science 2020-01-16 Markus Zlabinger , Sebastian Hofstätter , Navid Rekabsaz , Allan Hanbury

Off-the-shelf biomedical embeddings obtained from the recently released various pre-trained language models (such as BERT, XLNET) have demonstrated state-of-the-art results (in terms of accuracy) for the various natural language…

Computation and Language · Computer Science 2020-12-22 Ishani Mondal

We propose a neural multi-document summarization (MDS) system that incorporates sentence relation graphs. We employ a Graph Convolutional Network (GCN) on the relation graphs, with sentence embeddings obtained from Recurrent Neural Networks…

Computation and Language · Computer Science 2017-08-24 Michihiro Yasunaga , Rui Zhang , Kshitijh Meelu , Ayush Pareek , Krishnan Srinivasan , Dragomir Radev

Adoption of recently developed methods from machine learning has given rise to creation of drug-discovery knowledge graphs (KG) that utilize the interconnected nature of the domain. Graph-based modelling of the data, combined with KG…

Machine Learning · Computer Science 2022-07-27 Stephen Bonner , Ufuk Kirik , Ola Engkvist , Jian Tang , Ian P Barrett

Many rare genetic diseases exhibit recognizable facial phenotypes, which are often used as diagnostic clues. However, current facial phenotype diagnostic models, which are trained on image datasets, have high accuracy but often suffer from…

Quantitative Methods · Quantitative Biology 2025-04-21 Jie Song , Mengqiao He , Shumin Ren , Bairong Shen

Sequencing large number of candidate disease genes which cause diseases in order to identify the relationship between them is an expensive and time-consuming task. To handle these challenges, different computational approaches have been…

Molecular Networks · Quantitative Biology 2019-04-16 Ali Jalilvand , Behzad Akbari , Fatemeh Zare Mirakabad , Foad Ghaderi

Gene expression datasets offer insights into gene regulation mechanisms, biochemical pathways, and cellular functions. Additionally, comparing gene expression profiles between disease and control patients can deepen the understanding of…

Machine Learning · Computer Science 2025-03-27 Rita T. Sousa , Heiko Paulheim

Improving the precision of heart diseases detection has been investigated by many researchers in the literature. Such improvement induced by the overwhelming health care expenditures and erroneous diagnosis. As a result, various…

Computers and Society · Computer Science 2018-03-29 Israa Ahmed Zriqat , Ahmad Mousa Altamimi , Mohammad Azzeh

In the last decades, people have been consuming and combining more drugs than before, increasing the number of Drug-Drug Interactions (DDIs). To predict unknown DDIs, recently, studies started incorporating Knowledge Graphs (KGs) since they…

Artificial Intelligence · Computer Science 2023-08-14 Lizzy Farrugia , Lilian M. Azzopardi , Jeremy Debattista , Charlie Abela

Genetic mutations can cause disease by disrupting normal gene function. Identifying the disease-causing mutations from millions of genetic variants within an individual patient is a challenging problem. Computational methods which can…

Machine Learning · Computer Science 2021-06-28 Jun Cheng , Carolin Lawrence , Mathias Niepert

In this paper, we consider the problem of disease diagnosis. Unlike the conventional learning paradigm that treats labels independently, we propose a knowledge-enhanced framework, that enables training visual representation with the…

Computer Vision and Pattern Recognition · Computer Science 2023-02-28 Chaoyi Wu , Xiaoman Zhang , Yanfeng Wang , Ya Zhang , Weidi Xie

Keyword-based searches are today's standard in digital libraries. Yet, complex retrieval scenarios like in scientific knowledge bases, need more sophisticated access paths. Although each document somewhat contributes to a domain's body of…

Information Retrieval · Computer Science 2024-12-23 Hermann Kroll , Pascal Sackhoff , Timo Breuer , Ralf Schenkel , Wolf-Tilo Balke

Published biomedical information has and continues to rapidly increase. The recent advancements in Natural Language Processing (NLP), have generated considerable interest in automating the extraction, normalization, and representation of…

Computation and Language · Computer Science 2024-04-24 Armando D. Diaz Gonzalez , Kevin S. Hughes , Songhui Yue , Sean T. Hayes

With the wide application of electronic health records (EHR) in healthcare facilities, health event prediction with deep learning has gained more and more attention. A common feature of EHR data used for deep-learning-based predictions is…

Machine Learning · Computer Science 2021-12-17 Chang Lu , Tian Han , Yue Ning

Preventable adverse events as a result of medical errors present a growing concern in the healthcare system. As drug-drug interactions (DDIs) may lead to preventable adverse events, being able to extract DDIs from drug labels into a…

Computation and Language · Computer Science 2019-11-06 Tung Tran , Ramakanth Kavuluru , Halil Kilicoglu