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Popular online enrichment analysis tools from the field of molecular systems biology provide users with the ability to submit their experimental results as gene sets for individual analysis. Such queries are kept private, and have never…

Molecular Networks · Quantitative Biology 2016-01-08 Avi Ma'ayan , Neil R. Clark

Community annotation of biological entities with concepts from multiple bio-ontologies has created large and growing repositories of ontology-based annotation data with embedded implicit relationships among orthogonal ontologies.…

Artificial Intelligence · Computer Science 2016-05-17 Prashanti Manda , Fiona McCarthy , Bindu Nanduri , Hui Wang , Susan M. Bridges

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

We consider a problem of data integration. Consider determining which genes affect a disease. The genes, which we call predictor objects, can be measured in different experiments on the same individual. We address the question of finding…

Machine Learning · Statistics 2016-10-04 Xin Gao , Raymond J. Carroll

Though deep learning has shown successful performance in classifying the label and severity stage of certain disease, most of them give few evidence on how to make prediction. Here, we propose to exploit the interpretability of deep…

Computer Vision and Pattern Recognition · Computer Science 2020-03-16 Yuhao Niu , Lin Gu , Feng Lu , Feifan Lv , Zongji Wang , Imari Sato , Zijian Zhang , Yangyan Xiao , Xunzhang Dai , Tingting Cheng

Query optimization has been studied using machine learning, reinforcement learning, and, more recently, graph-based convolutional networks. Ontology, as a structured, information-rich knowledge representation, can provide context,…

Databases · Computer Science 2025-11-11 Songhui Yue , Yang Shao , Sean Hayes

Due to the complexity of the human body, most diseases present a high inter-personal variability in the way they manifest, i.e. in their phenotype, which has important clinical repercussions - as for instance the difficulty in defining…

Physics and Society · Physics 2018-06-06 Massimiliano Zanin , Juan Manuel Tuñas , Ernestina Menasalvas

Correlation of gene histories in the human genome determines the patterns of genetic variation (haplotype structure) and is crucial to understanding genetic factors in common diseases. We derive closed analytical expressions for the…

Genomics · Quantitative Biology 2009-11-10 A. Eriksson , B. Mehlig

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…

In microarray experiments, it is often of interest to identify genes which have a pre-specified gene expression profile with respect to time. Methods available in the literature are, however, typically not stringent enough in identifying…

Applications · Statistics 2009-01-18 J. Tuke , G. F. V. Glonek , P. J. Solomon

Discovering genes with similar functions across diverse biomedical contexts poses a significant challenge in gene representation learning due to data heterogeneity. In this study, we resolve this problem by introducing a novel model called…

Machine Learning · Computer Science 2023-10-05 Tianyu Liu , Yuge Wang , Rex Ying , Hongyu Zhao

The premise of genetic analysis is that a causal link exists between phenotypic and allelic variation. Yet it has long been documented that mutant phenotypes are not a simple result of a single DNA lesion, but rather are due to interactions…

Genomics · Quantitative Biology 2014-06-04 Chris H. Chandler , Sudarshan Chari , Ian Dworkin

Extensive research shows that more species-rich assemblages are generally more productive and efficient in resource use than comparable assemblages with fewer species. But the question of how diversity simultaneously affects the wide…

We applied machine learning to predict whether a gene is involved in axon regeneration. We extracted 31 features from different databases and trained five machine learning models. Our optimal model, a Random Forest Classifier with 50…

Machine Learning · Computer Science 2019-09-27 Haoze Wu , Yangyu Zhou

Gene Regulatory Networks (GRNs) are intricate biological systems that control gene expression and regulation in response to environmental and developmental cues. Advances in computational biology, coupled with high throughput sequencing…

Machine Learning · Computer Science 2025-04-18 Akshata Hegde , Tom Nguyen , Jianlin Cheng

With the new era of genomics, an increasing number of animal species are amenable to large-scale data generation. This had led to the emergence of new multi-species ontologies to annotate and organize these data. While anatomy and cell…

Quantitative Methods · Quantitative Biology 2022-06-27 Anne Niknejad , Christopher J. Mungall , David Osumi-Sutherland , Marc Robinson-Rechavi , Frederic B. Bastian

Machine learning methods in healthcare have traditionally focused on using data from a single modality, limiting their ability to effectively replicate the clinical practice of integrating multiple sources of information for improved…

Machine Learning · Computer Science 2024-02-13 Felix Krones , Umar Marikkar , Guy Parsons , Adam Szmul , Adam Mahdi

A comparison between human and Generative AI decision-making attributes in complex health services is a knowledge gap in the literature, at present. Humans may possess unique attributes beneficial to decision-making in complex health…

Human-Computer Interaction · Computer Science 2025-05-14 Nandini Doreswamy , Louise Horstmanshof

Biosurveillance, a relatively young field, has recently increased in importance because of its relevance to national security and global health. Databases and tools describing particular subsets of disease are becoming increasingly common…

Quantitative Methods · Quantitative Biology 2016-09-20 A. R. Daughton , R. Priedhorsky , G. Fairchild , N. Generous , A. Hengartner , E. Abeyta , N. Velappan , A. Lillo , K. Stark , A. Deshpande

Human disease diagnosis is a complicated process and requires high level of expertise. Any attempt of developing a web-based expert system dealing with human disease diagnosis has to overcome various difficulties. This paper describes a…

Artificial Intelligence · Computer Science 2010-06-24 Mir Anamul Hasan , Khaja Md. Sher-E-Alam , Ahsan Raja Chowdhury
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