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Electronic properties of DNA are believed to play a crucial role in many phenomena in living organisms, for example the location of DNA lesions by base excision repair (BER) glycosylases and the regulation of tumor-suppressor genes such as…

Other Quantitative Biology · Quantitative Biology 2012-02-21 Chi-Tin Shih , Stephen A. Wells , Ching-Ling Hsu , Yun-Yin Cheng , Rudolf A. Römer

Characterization of pluripotent states, in which cells can both self-renew and differentiate, and the irreversible loss of pluripotency are important research areas in developmental biology. In particular, an understanding of these…

Molecular Networks · Quantitative Biology 2015-09-02 Tadashi Miyamoto , Chikara Furusawa , Kunihiko Kaneko

In recent years, there has been significant development in the analysis of medical data using machine learning. It is believed that the onset of Age-related Macular Degeneration (AMD) is associated with genetic polymorphisms. However,…

Computer Vision and Pattern Recognition · Computer Science 2024-09-18 Yoichi Furukawa , Satoshi Kamiya , Yoichi Sakurada , Kenji Kashiwagi , Kazuhiro Hotta

There is a growing proportion of people with several disease conditions ("multimorbidity"), placing increasing demands on healthcare systems. One hypothesis is that clusters of diseases may arise from shared underlying disease processes…

Methodology · Statistics 2025-08-15 Anthony J. Webster

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

Medical artificial intelligence (AI) systems frequently lack systematic domain expertise integration, potentially compromising diagnostic reliability. This study presents an ontology-based framework for bone disease diagnosis, developed in…

Artificial Intelligence · Computer Science 2025-06-06 Loan Dao , Ngoc Quoc Ly

Causal discovery in multi-omic datasets is crucial for understanding the bigger picture of gene regulatory mechanisms, but remains challenging due to high dimensionality, differentiation of direct from indirect relationships, and hidden…

Genomics · Quantitative Biology 2025-05-23 Stephen Asiedu , David Watson

A fundamental problem in medicine and biology is to assign states, e.g. healthy or diseased, to cells, organs or individuals. State assignment or making a diagnosis is often a nontrivial and challenging process and, with the advent of omics…

Biological Physics · Physics 2017-05-16 Abolfazl Ramezanpour , Alireza Mashaghi

The increased capabilities of generative AI have dramatically expanded its possible use cases in medicine. We provide a comprehensive overview of generative AI use cases for clinicians, patients, clinical trial organizers, researchers, and…

Machine Learning · Computer Science 2024-12-18 Divya Shanmugam , Monica Agrawal , Rajiv Movva , Irene Y. Chen , Marzyeh Ghassemi , Maia Jacobs , Emma Pierson

In this paper, we present a diagnosis method of diseases from clinical data. The data are routine test such as urine test, hematology, chemistries etc. Though those tests have been done for people who check in medical institutes, how each…

Computational Engineering, Finance, and Science · Computer Science 2007-05-23 Gene Kim , MyungHo Kim

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

In the field of genetics, the concept of heritability refers to the proportion of variations of a biological trait or disease that can be explained by genetic factors. Quantifying the heritability of a disease is a fundamental challenge in…

Statistics Theory · Mathematics 2016-11-10 Anna Bonnet

After the completion of human genome sequence was anounced, it is evident that interpretation of DNA sequences is an immediate task to work on. For understanding their signals, improvement of present sequence analysis tools and developing…

Computational Complexity · Computer Science 2007-05-23 Gene Kim , MyungHo Kim

A disease that limits a plant from its maximal capacity is defined as plant disease. From the perspective of agriculture, diagnosing plant disease is crucial, as diseases often limit plants' production capacity. However, manual approaches…

Computer Vision and Pattern Recognition · Computer Science 2020-11-11 Muhammad Mohsin Kabir , Abu Quwsar Ohi , M. F. Mridha

The recent increase in morbidity is primarily due to chronic diseases including Diabetes, Heart disease, Lung cancer, and brain tumours. The results for patients can be improved, and the financial burden on the healthcare system can be…

Machine Learning · Computer Science 2025-02-18 Sri Varsha Mulakala , G. Neeharika , P. Vinay Kumar , A. Bhargava Kiran

Biomolecular networks have already found great utility in characterizing complex biological systems arising from pair-wise interactions amongst biomolecules. Here, we review how graph theoretical approaches can be applied not only for a…

Molecular Networks · Quantitative Biology 2018-12-03 Heeralal Janwa , Steven E. Massey , Julian Velev , Bud Mishra

We present an automated method of identifying communities of functionally related genes from the biomedical literature. These communities encapsulate human gene and protein interactions and identify groups of genes that are complementary in…

Statistical Mechanics · Physics 2007-05-23 Dennis Wilkinson , Bernardo A. Huberman

Despite the large number of patients in Electronic Health Records (EHRs), the subset of usable data for modeling outcomes of specific phenotypes are often imbalanced and of modest size. This can be attributed to the uneven coverage of…

Machine Learning · Computer Science 2021-03-25 Mohamed Ghalwash , Zijun Yao , Prithwish Chakraborty , James Codella , Daby Sow

Cancer disease occurs because of a disorder in the cellular regulatory mechanism, Which causes cellular malformation. The genes that start the malformation are called Cancer driver genes (CDGs) . Numerous computational methods have been…

Molecular Networks · Quantitative Biology 2020-12-16 Mostafa Akhavan Safar , Babak Teimourpour , Mehrdad Kargari

Understanding the mechanisms of interactions within cells, tissues, and organisms is crucial to driving developments across biology and medicine. Mathematical modeling is an essential tool for simulating biological systems and revealing…

Molecular Networks · Quantitative Biology 2024-08-13 Lingxia Qiao , Ali Khalilimeybodi , Nathaniel J Linden-Santangeli , Padmini Rangamani