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Detecting and assessing statistical significance of differentially methylated regions (DMRs) is a fundamental task in methylome association studies. While the average differential methylation in different phenotype groups has been the…

Methodology · Statistics 2023-06-28 Xiaoyu Wang , Ming Yu , William Grady , Ziding Feng , Wei Sun , James Y Dai

The number of studies on deep learning for medical diagnosis is expanding, and these systems are often claimed to outperform clinicians. However, only a few systems have shown medical efficacy. From this perspective, we examine a wide range…

Image and Video Processing · Electrical Eng. & Systems 2023-04-04 Numan Saeed , Muhammad Ridzuan , Hussain Alasmawi , Ikboljon Sobirov , Mohammad Yaqub

Digitization of histopathology slides has led to several advances, from easy data sharing and collaborations to the development of digital diagnostic tools. Deep learning (DL) methods for classification and detection have shown great…

Image and Video Processing · Electrical Eng. & Systems 2020-05-25 Apostolia Tsirikoglou , Karin Stacke , Gabriel Eilertsen , Martin Lindvall , Jonas Unger

The advent of digital pathology presents opportunities for computer vision for fast, accurate, and objective solutions for histopathological images and aid in knowledge discovery. This work uses deep learning to predict genomic biomarkers -…

Computer Vision and Pattern Recognition · Computer Science 2021-03-16 Ruchi Chauhan , PK Vinod , CV Jawahar

Diagnostic imaging has gained prominence as potential biomarkers for early detection and diagnosis in a diverse array of disorders including cancer. However, existing methods routinely face challenges arising from various factors such as…

Detection of minimal residual disease (MRD) in cancer patients after surgery can provide an early marker for disease recurrence and guide subsequent treatment decisions. Accurate and sensitive estimation of tumour burden after cancer…

Multi-cancer early detection (MCED) tests offer to screen for multiple types of cancer with a single blood sample. Despite their promising diagnostic performance, evidence regarding their population benefit is not yet available. Expecting…

Applications · Statistics 2023-07-04 Jane M. Lange , Kemal C. Gogebakan , Roman Gulati , Ruth Etzioni

The somatic mutations in the pathways that drive cancer development tend to be mutually exclusive across tumors, providing a signal for distinguishing driver mutations from a larger number of random passenger mutations. This mutual…

Quantitative Methods · Quantitative Biology 2016-07-11 Mark D. M. Leiserson , Matthew A. Reyna , Benjamin J. Raphael

Objectives: To assess evaluative methodologies for comparative measurements of test sensitivity in clinical mammographic screening trials of computer-aided detection (CAD) technologies. Materials and Methods: This meta-analysis was…

Medical Physics · Physics 2013-02-07 Jacob Levman

Prostate cancer diagnosis through MR imaging have currently relied on radiologists' interpretation, whilst modern AI-based methods have been developed to detect clinically significant cancers independent of radiologists. In this study, we…

Image and Video Processing · Electrical Eng. & Systems 2026-01-09 Xiangcen Wu , Yipei Wang , Qianye Yang , Natasha Thorley , Shonit Punwani , Veeru Kasivisvanathan , Ester Bonmati , Yipeng Hu

The understanding of mechanisms that control epigenetic changes is an important research area in modern functional biology. Epigenetic modifications such as DNA methylation are in general very stable over many cell divisions. DNA…

Genomics · Quantitative Biology 2019-01-21 Charalampos Kyriakopoulos , Pascal Giehr , Alexander Lück , Jörn Walter , Verena Wolf

The development of accessible screening tools for early cancer detection in dogs represents a significant challenge in veterinary medicine. Routine laboratory data offer a promising, low-cost source for such tools, but their utility is…

Machine Learning · Computer Science 2025-12-11 Shumin Li

Abnormal metabolism is an emerging hallmark of cancer. Cancer cells utilize both aerobic glycolysis and oxidative phosphorylation (OXPHOS) for energy production and biomass synthesis. Understanding the metabolic reprogramming in cancer can…

Molecular Networks · Quantitative Biology 2017-11-28 Fengdan Ye , Dongya Jia , Mingyang Lu , Herbert Levine , Michael W Deem

Multi-gene panel testing allows efficient detection of pathogenic variants in cancer susceptibility genes including moderate-risk genes such as ATM and PALB2. A growing number of studies examine the risk of breast cancer (BC) conferred by…

Survival risk stratification is an important step in clinical decision making for breast cancer management. We propose a novel deep learning approach for this purpose by integrating histopathological imaging, genetic and clinical data. It…

Computer Vision and Pattern Recognition · Computer Science 2024-02-20 Raktim Kumar Mondol , Ewan K. A. Millar , Arcot Sowmya , Erik Meijering

The objective of this study is to predict suicidal and non-suicidal deaths from DNA methylation data using a modern machine learning algorithm. We used support vector machines to classify existing secondary data consisting of normalized…

Genomics · Quantitative Biology 2020-04-07 Rifat Zahan , Ian McQuillan , Nathaniel D. Osgood

Recent advances in high-resolution biomedical imaging focusing on morphological, electrical, and biochemical properties of cells and tissues, scaling from cell clusters down to the molecular level, have improved cancer diagnosis. Multiscale…

Medical Physics · Physics 2023-04-21 Phat K. Huynh , Dang Nguyen , Grace Binder , Sharad Ambardar , Trung Q. Le , Dmitri V. Voronine

Researchers in genetics and other life sciences commonly use permutation tests to evaluate differences between groups. Permutation tests have desirable properties, including exactness if data are exchangeable, and are applicable even when…

Computation · Statistics 2018-11-01 Brian Segal , Thomas Braun , Michael Elliott , Hui Jiang

Prognostic genes have been well studied within each type of cancer. However, investigations of the similarities and differences across cancer types are rare. In view of the optimal course of treatment, the classification of cancers into…

Applications · Statistics 2019-03-20 Arturo Chavez , Dimitris Koutentakis , Youzhi Liang , Sonali Tripathy , Jie Yun

Multi-state models of cancer natural history are widely used for designing and evaluating cancer early detection strategies. Calibrating such models against longitudinal data from screened cohorts is challenging, especially when fitting…

Computation · Statistics 2025-08-14 Raphael Morsomme , Shannon Holloway , Marc Ryser , Jason Xu
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