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Bioinformatics tools have been developed to interpret gene expression data at the gene set level, and these gene set based analyses improve the biologists' capability to discover functional relevance of their experiment design. While…

Machine Learning · Statistics 2019-01-01 Hung-I Harry Chen , Yu-Chiao Chiu , Tinghe Zhang , Songyao Zhang , Yufei Huang , Yidong Chen

DNA methylation is a well-studied genetic modification that regulates gene transcription of Eukaryotes. Its alternations have been recognized as a significant component of cancer development. In this study, we use the DNA methylation 450k…

Tissues and Organs · Quantitative Biology 2021-01-05 Shen Jia , Yulin Zhang , Yiming Mao , Jiawei Gao , Yixuan Chen , Yuxuan Jiang , Haochen Luo , Kebo Lv , Jionglong Su

Purpose: To determine whether deep learning models can distinguish between breast cancer molecular subtypes based on dynamic contrast-enhanced magnetic resonance imaging (DCE-MRI). Materials and methods: In this institutional review…

Computer Vision and Pattern Recognition · Computer Science 2017-12-01 Zhe Zhu , Ehab Albadawy , Ashirbani Saha , Jun Zhang , Michael R. Harowicz , Maciej A. Mazurowski

High-dimensional clinical data have become invaluable resources for genetic studies, due to their accessibility in biobank-scale datasets and the development of high performance modeling techniques especially using deep learning. Recent…

Machine Learning · Computer Science 2023-07-19 Taedong Yun

Unsupervised learning can leverage large-scale data sources without the need for annotations. In this context, deep learning-based autoencoders have shown great potential in detecting anomalies in medical images. However, especially…

Image and Video Processing · Electrical Eng. & Systems 2020-01-03 David Zimmerer , Simon Kohl , Jens Petersen , Fabian Isensee , Klaus Maier-Hein

Motivation. Understanding the pan-cancer mutational landscape offers critical insights into the molecular mechanisms underlying tumorigenesis. While patient-level machine learning techniques have been widely employed to identify tumor…

Machine Learning · Computer Science 2025-08-29 Yifan Dou , Adam Khadre , Ruben C Petreaca , Golrokh Mirzaei

The lack of explainability is one of the most prominent disadvantages of deep learning applications in omics. This "black box" problem can undermine the credibility and limit the practical implementation of biomedical deep learning models.…

Genomics · Quantitative Biology 2021-08-19 Eloise Withnell , Xiaoyu Zhang , Kai Sun , Yike Guo

Gene expression profiles obtained through DNA microarray have proven successful in providing critical information for cancer detection classifiers. However, the limited number of samples in these datasets poses a challenge to employ complex…

Machine Learning · Computer Science 2024-08-20 Arya Hadizadeh Moghaddam , Mohsen Nayebi Kerdabadi , Cuncong Zhong , Zijun Yao

Cancer and its subtypes constitute approximately 30% of all causes of death globally and display a wide range of heterogeneity in terms of clinical and molecular responses to therapy. Molecular subtyping has enabled the use of precision…

Quantitative Methods · Quantitative Biology 2024-07-11 Anwar Khan , Boreom Lee

Determining the primary site of origin for metastatic tumors is one of the open problems in cancer care because the efficacy of treatment often depends on the cancer tissue of origin. Classification methods that can leverage tumor genomic…

Genomics · Quantitative Biology 2019-11-19 Alena Harley

Accurately identifying cancer samples is crucial for precise diagnosis and effective patient treatment. Traditional methods falter with high-dimensional and high feature-to-sample count ratios, which are critical for classifying cancer…

Machine Learning · Computer Science 2025-01-14 Tareque Mohmud Chowdhury , Farzana Tabassum , Sabrina Islam , Abu Raihan Mostofa Kamal

Risk stratification (characterization) of tumors from radiology images can be more accurate and faster with computer-aided diagnosis (CAD) tools. Tumor characterization through such tools can also enable non-invasive cancer staging,…

Computer Vision and Pattern Recognition · Computer Science 2019-01-21 Sarfaraz Hussein , Pujan Kandel , Candice W. Bolan , Michael B. Wallace , Ulas Bagci

Molecular subtyping of PDAC into basal-like and classical has established prognostic and predictive value. However, its use in clinical practice is limited by cost, turnaround time, and tissue requirements, thereby restricting its…

Cancer is still one of the most devastating diseases of our time. One way of automatically classifying tumor samples is by analyzing its derived molecular information (i.e., its genes expression signatures). In this work, we aim to…

Machine Learning · Computer Science 2020-01-16 Mafalda Falcao Ferreira , Rui Camacho , Luis F. Teixeira

A Deep Autoencoder based content retrieval algorithm is proposed for prediction and differentiation of cancer types based on the presence of epigenetic patterns of DNA methylation identified in genetic regions known as CpG islands. The…

Quantitative Methods · Quantitative Biology 2018-10-08 Mohammed Khwaja , Melpomeni Kalofonou , Chris Toumazou

Early detection of cancer plays a key role in improving survival rates, but identifying reliable biomarkers from RNA-seq data is still a major challenge. The data are high-dimensional, and conventional statistical methods often fail to…

Machine Learning · Computer Science 2025-12-09 Shreyas Shende , Varsha Narayanan , Vishal Fenn , Yiran Huang , Dincer Goksuluk , Gaurav Choudhary , Melih Agraz , Mengjia Xu

Unsupervised learning can leverage large-scale data sources without the need for annotations. In this context, deep learning-based auto encoders have shown great potential in detecting anomalies in medical images. However, state-of-the-art…

Machine Learning · Computer Science 2018-12-17 David Zimmerer , Simon A. A. Kohl , Jens Petersen , Fabian Isensee , Klaus H. Maier-Hein

The confluence of ultrafast computers with large memory, rapid progress in Machine Learning (ML) algorithms, and the availability of large datasets place multiple engineering fields at the threshold of dramatic progress. However, a unique…

Machine Learning · Computer Science 2025-09-15 Farah Alsafadi , Mahmoud Yaseen , Xu Wu

The characterization of Tumor MicroEnvironment (TME) is challenging due to its complexity and heterogeneity. Relatively consistent TME characteristics embedded within highly specific tissue features, render them difficult to predict. The…

Computer Vision and Pattern Recognition · Computer Science 2024-07-09 Fangliangzi Meng , Hongrun Zhang , Ruodan Yan , Guohui Chuai , Chao Li , Qi Liu

Recent advancements in image classification have demonstrated that contrastive learning (CL) can aid in further learning tasks by acquiring good feature representation from a limited number of data samples. In this paper, we applied CL to…

Machine Learning · Computer Science 2024-10-22 Anchen Sun , Elizabeth J. Franzmann , Zhibin Chen , Xiaodong Cai