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Ontology-based approaches for predicting gene-disease associations include the more classical semantic similarity methods and more recently knowledge graph embeddings. While semantic similarity is typically restricted to hierarchical…

Machine Learning · Computer Science 2021-06-01 Susana Nunes , Rita T. Sousa , Catia Pesquita

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

Discovery gene-disease links is important in biology and medicine areas, enabling disease identification and drug repurposing. Machine learning approaches accelerate this process by leveraging biological knowledge represented in ontologies…

Machine Learning · Computer Science 2025-04-14 Catarina Canastra , Cátia Pesquita

We study the challenges of applying deep learning to gene expression data. We find experimentally that there exists non-linear signal in the data, however is it not discovered automatically given the noise and low numbers of samples used in…

Genomics · Quantitative Biology 2018-06-20 Francis Dutil , Joseph Paul Cohen , Martin Weiss , Georgy Derevyanko , Yoshua Bengio

A key component of deep learning (DL) for natural language processing (NLP) is word embeddings. Word embeddings that effectively capture the meaning and context of the word that they represent can significantly improve the performance of…

Ontologies are widely used for representing domain knowledge and meta data, playing an increasingly important role in Information Systems, the Semantic Web, Bioinformatics and many other domains. However, logical reasoning that ontologies…

Artificial Intelligence · Computer Science 2025-04-08 Jiaoyan Chen , Olga Mashkova , Fernando Zhapa-Camacho , Robert Hoehndorf , Yuan He , Ian Horrocks

Diabetes is a worldwide health issue affecting millions of people. Machine learning methods have shown promising results in improving diabetes prediction, particularly through the analysis of diverse data types, namely gene expression data.…

Machine Learning · Computer Science 2024-04-24 Rita T. Sousa , Heiko Paulheim

Accurate prediction of cancer progression remains a challenge due to the high heterogeneity of molecular omics data across patients. While biologically informed models have improved the interpretability of these predictions, a persistent…

Machine Learning · Computer Science 2026-04-21 Koushik Howlader , Md Tauhidul Islam , Wei Le

We present a method for finding hierarchy-aware embeddings of knowledge graphs (KGs) using graph neural networks (GNNs) enriched with a semantic loss derived from underlying ontologies. This method yields embeddings that better reflect…

Machine Learning · Computer Science 2026-05-21 Filip Kronström , Alexander H. Gower , Daniel Brunnsåker , Ievgeniia A. Tiukova , Ross D. King

Learning low-dimensional embeddings of knowledge graphs is a powerful approach used to predict unobserved or missing edges between entities. However, an open challenge in this area is developing techniques that can go beyond simple edge…

Social and Information Networks · Computer Science 2019-10-30 William L. Hamilton , Payal Bajaj , Marinka Zitnik , Dan Jurafsky , Jure Leskovec

Manifold learning techniques have become increasingly valuable as data continues to grow in size. By discovering a lower-dimensional representation (embedding) of the structure of a dataset, manifold learning algorithms can substantially…

Neural and Evolutionary Computing · Computer Science 2020-01-31 Andrew Lensen , Mengjie Zhang , Bing Xue

Motivation: Predicting gene-disease associations (GDAs) is the problem to determine which gene is associated with a disease. GDA prediction can be framed as a ranking problem where genes are ranked for a query disease, based on features…

Quantitative Methods · Quantitative Biology 2026-02-03 Fernando Zhapa-Camacho , Robert Hoehndorf

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

Gene expression data represents a unique challenge in predictive model building, because of the small number of samples $(n)$ compared to the huge amount of features $(p)$. This "$n<<p$" property has hampered application of deep learning…

Machine Learning · Statistics 2018-02-13 Yunchuan Kong , Tianwei Yu

Interpretability of deep learning is widely used to evaluate the reliability of medical imaging models and reduce the risks of inaccurate patient recommendations. For models exceeding human performance, e.g. predicting RNA structure from…

Quantitative Methods · Quantitative Biology 2022-08-31 Mara Graziani , Niccolò Marini , Nicolas Deutschmann , Nikita Janakarajan , Henning Müller , María Rodríguez Martínez

Taking advantage of the widespread use of ontologies to organise and harmonize knowledge across several distinct domains, this paper proposes a novel approach to improve an embedding-Large Language Model (embedding-LLM) of interest by…

Computation and Language · Computer Science 2024-06-03 Francesco Ronzano , Jay Nanavati

Interventional cancer clinical trials are generally too restrictive, and some patients are often excluded on the basis of comorbidity, past or concomitant treatments, or the fact that they are over a certain age. The efficacy and safety of…

Computation and Language · Computer Science 2018-07-26 Aurelia Bustos , Antonio Pertusa

Low-dimensional embeddings for data from disparate sources play critical roles in multi-modal machine learning, multimedia information retrieval, and bioinformatics. In this paper, we propose a supervised dimensionality reduction method…

Machine Learning · Computer Science 2021-01-15 Yanjun Li , Bihan Wen , Hao Cheng , Yoram Bresler

The task of data integration for multi-omics data has emerged as a powerful strategy to unravel the complex biological underpinnings of cancer. Recent advancements in graph neural networks (GNNs) offer an effective framework to model…

Machine Learning · Computer Science 2025-06-24 Payam Zohari , Mostafa Haghir Chehreghani

Gene expression-based heterogeneity analysis has been extensively conducted. In recent studies, it has been shown that network-based analysis, which takes a system perspective and accommodates the interconnections among genes, can be more…

Methodology · Statistics 2023-08-09 Rong Li , Qingzhao Zhang , Shuangge Ma
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