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Precision medicine is a paradigm shift in healthcare relying heavily on genomics data. However, the complexity of biological interactions, the large number of genes as well as the lack of comparisons on the analysis of data, remain a…

Defining and separating cancer subtypes is essential for facilitating personalized therapy modality and prognosis of patients. The definition of subtypes has been constantly recalibrated as a result of our deepened understanding. During…

Machine Learning · Computer Science 2022-07-21 Zheng Chen , Ziwei Yang , Lingwei Zhu , Guang Shi , Kun Yue , Takashi Matsubara , Shigehiko Kanaya , MD Altaf-Ul-Amin

According to the National Cancer Institute, there were 9.5 million cancer-related deaths in 2018. A challenge in improving treatment is resistance in genetically unstable cells. The purpose of this study is to evaluate unsupervised machine…

Genomics · Quantitative Biology 2021-08-12 Anastasia Dunca , Frederick R. Adler

Quantitative medical image computing (radiomics) has been widely applied to build prediction models from medical images. However, overfitting is a significant issue in conventional radiomics, where a large number of radiomic features are…

Image and Video Processing · Electrical Eng. & Systems 2020-01-07 Jianan Chen , Laurent Milot , Helen M. C. Cheung , Anne L. Martel

Late diagnosis and high costs are key factors that negatively impact the care of cancer patients worldwide. Although the availability of biological markers for the diagnosis of cancer type is increasing, costs and reliability of tests…

Machine Learning · Computer Science 2019-08-20 Sterling Ramroach , Melford John , Ajay Joshi

Cancer is a number of related yet highly heterogeneous diseases. Correct identification of cancer subtypes is critical for clinical decisions. The advance in sequencing technologies has made it possible to study cancer based on abundant…

Applications · Statistics 2018-11-27 Xiaochun Chen , Honggang Wang , Donghui Yan

Breast cancer has long been a prominent cause of mortality among women. Diagnosis, therapy, and prognosis are now possible, thanks to the availability of RNA sequencing tools capable of recording gene expression data. Molecular subtyping…

Machine Learning · Computer Science 2021-11-11 Sheetal Rajpal , Virendra Kumar , Manoj Agarwal , Naveen Kumar

Unlike common cancers, such as those of the prostate and breast, tumor grading in rare cancers is difficult and largely undefined because of small sample sizes, the sheer volume of time needed to undertake on such a task, and the inherent…

Single-cell RNA sequencing (scRNA-seq) enables researchers to analyze gene expression at single-cell level. One important task in scRNA-seq data analysis is unsupervised clustering, which helps identify distinct cell types, laying down the…

Genomics · Quantitative Biology 2023-12-29 Weikang Jiang , Jinxian Wang , Jihong Guan , Shuigeng Zhou

Background: Single nucleotide variants (SNVs) are detected as different distributions of DNA samples of distinct types of cancer patients. Even though, it is an exacting task to select the appropriate method to identify cancer to the…

Quantitative Methods · Quantitative Biology 2020-02-26 Bo Li , Junying Zhang , Liang Yu

Recent analysis identified distinct genomic subtypes of lower-grade glioma tumors which are associated with shape features. In this study, we propose a fully automatic way to quantify tumor imaging characteristics using deep learning-based…

Image and Video Processing · Electrical Eng. & Systems 2019-06-11 Mateusz Buda , Ashirbani Saha , Maciej A Mazurowski

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

Gene expression profiles have been widely used to characterize patterns of cellular responses to diseases. As data becomes available, scalable learning toolkits become essential to processing large datasets using deep learning models to…

Machine Learning · Computer Science 2019-02-01 Ya Ju Fan , Jonathan E. Allen , Sam Ade Jacobs , Brian C. Van Essen

Cancer subtyping is crucial for understanding the nature of tumors and providing suitable therapy. However, existing labelling methods are medically controversial, and have driven the process of subtyping away from teaching signals.…

Machine Learning · Computer Science 2022-11-15 Zheng Chen , Lingwei Zhu , Ziwei Yang , Takashi Matsubara

Discovery of diagnostic and prognostic molecular markers is important and actively pursued the research field in cancer research. For complex diseases, this process is often performed using Machine Learning. The current study compares two…

Genomics · Quantitative Biology 2020-04-30 Aneta Polewko-Klim , Witold R. Rudnicki

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

RNA sequencing (RNA-seq) is the conventional genome-scale approach used to capture the expression levels of all detectable genes in a biological sample. This is now regularly used for population-based studies designed to identify genetic…

Genomics · Quantitative Biology 2026-05-25 Christopher Thron , Farhad Jafari

Molecular data from tumor profiles is high dimensional. Tumor profiles can be characterized by tens of thousands of gene expression features. Due to the size of the gene expression feature set machine learning methods are exposed to noisy…

Machine Learning · Computer Science 2020-07-14 Martin Palazzo , Pierre Beauseroy , Patricio Yankilevich

With the increased affordability and availability of whole-genome sequencing, large-scale and high-throughput gene expression is widely used to characterize diseases, including cancers. However, establishing specificity in cancer diagnosis…

Machine Learning · Statistics 2018-12-21 Xi Chen , Jin Xie , Qingcong Yuan

Extracting an understanding of the underlying system from high dimensional data is a growing problem in science. Discovering informative and meaningful features is crucial for clustering, classification, and low dimensional data embedding.…

Machine Learning · Statistics 2019-12-10 Samuel Melton , Sharad Ramanathan
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