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Deep learning has become the mainstream methodological choice for analyzing and interpreting whole-slide digital pathology images (WSIs). It is commonly assumed that tumor regions carry most predictive information. In this paper, we…

Quantitative Methods · Quantitative Biology 2022-04-26 Zihan Chen , Xingyu Li , Miaomiao Yang , Hong Zhang , Xu Steven Xu

Despite technological and medical advances, the detection, interpretation, and treatment of cancer based on imaging data continue to pose significant challenges. These include inter-observer variability, class imbalance, dataset shifts,…

Image and Video Processing · Electrical Eng. & Systems 2022-11-29 Richard Osuala , Kaisar Kushibar , Lidia Garrucho , Akis Linardos , Zuzanna Szafranowska , Stefan Klein , Ben Glocker , Oliver Diaz , Karim Lekadir

The recent development of high-throughput sequencing creates a large collection of multi-omics data, which enables researchers to better investigate cancer molecular profiles and cancer taxonomy based on molecular subtypes. Integrating…

Genomics · Quantitative Biology 2024-01-25 Bingjun Li , Sheida Nabavi

Meta-analysis of multiple genome-wide association studies (GWAS) is effective for detecting single or multi marker associations with complex traits. We develop a flexible procedure ("STAMP") based on mixture models to perform region based…

Methodology · Statistics 2018-01-01 Andriy Derkach , Ruth M. Pfeiffer

Many machine learning models have been proposed to classify phenotypes from gene expression data. In addition to their good performance, these models can potentially provide some understanding of phenotypes by extracting explanations for…

Genomics · Quantitative Biology 2024-02-05 Myriam Bontonou , Anaïs Haget , Maria Boulougouri , Benjamin Audit , Pierre Borgnat , Jean-Michel Arbona

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

Revealing relationships between genes and disease phenotypes is a critical problem in biomedical studies. This problem has been challenged by the heterogeneity of diseases. Patients of a perceived same disease may form multiple subgroups,…

Methodology · Statistics 2022-11-30 Yifan Sun , Ziye Luo , Xinyan Fan

Background: Accurate survival prediction in breast cancer is essential for patient stratification and personalized therapy. Integrating gene expression data with clinical factors may enhance prognostic performance and support precision…

Quantitative Methods · Quantitative Biology 2025-08-26 Robert Amevor , Emmanuel Kubuafor , Dennis Baidoo , Junaidu Salifu , Koshali Muthunama Gonnage , Onyedikachi Joshua Okeke

The molecular characterization of tumor samples by multiple omics data sets of different types or modalities (e.g. gene expression, mutation, CpG methylation) has become an invaluable source of information for assessing the expected…

Applications · Statistics 2022-08-26 The Tien Mai , Leiv Rønneberg , Zhi Zhao , Manuela Zucknick , Jukka Corander

This paper addresses patient heterogeneity associated with prediction problems in biomedical applications. We propose a systematic hypothesis testing approach to determine the existence of patient subgroup structure and the number of…

Methodology · Statistics 2021-01-08 Xu Gao , Weining Shen , Jing Ning , Ziding Feng , Jianhua Hu

The transcriptomics of cancer tumors are characterized with tens of thousands of gene expression features. Patient prognosis or tumor stage can be assessed by machine learning techniques like supervised classification tasks given a gene…

Machine Learning · Computer Science 2020-04-13 Martin Palazzo , Patricio Yankilevich , Pierre Beauseroy

The emergence and development of cancer is a consequence of the accumulation over time of genomic mutations involving a specific set of genes, which provides the cancer clones with a functional selective advantage. In this work, we model…

Machine Learning · Computer Science 2017-03-10 Daniele Ramazzotti , Marco S. Nobile , Paolo Cazzaniga , Giancarlo Mauri , Marco Antoniotti

Cancer diagnosis, prognosis, and therapeutic response predictions are based on morphological information from histology slides and molecular profiles from genomic data. However, most deep learning-based objective outcome prediction and…

Computer Vision and Pattern Recognition · Computer Science 2020-09-04 Richard J. Chen , Ming Y. Lu , Jingwen Wang , Drew F. K. Williamson , Scott J. Rodig , Neal I. Lindeman , Faisal Mahmood

In the genomic era, the identification of gene signatures associated with disease is of significant interest. Such signatures are often used to predict clinical outcomes in new patients and aid clinical decision-making. However, recent…

Methodology · Statistics 2019-03-27 Naim U. Rashid , Quefeng Li , Jen Jen Yeh , Joseph G. Ibrahim

It is increasingly common clinically for cancer specimens to be examined using techniques that identify somatic mutations. In principle these mutational profiles can be used to diagnose the tissue of origin, a critical task for the 3-5% of…

Methodology · Statistics 2020-07-14 Saptarshi Chakraborty , Colin B. Begg , Ronglai Shen

There is a growing need for flexible general frameworks that integrate individual-level data with external summary information for improved statistical inference. External information relevant for a risk prediction model may come in…

Methodology · Statistics 2023-04-11 Tian Gu , Jeremy M. G. Taylor , Bhramar Mukherjee

High accuracy in cancer prediction is important to improve the quality of the treatment and to improve the rate of survivability of patients. As the data volume is increasing rapidly in the healthcare research, the analytical challenge…

Machine Learning · Computer Science 2014-03-13 J S Saleema , N Bhagawathi , S Monica , P Deepa Shenoy , K R Venugopal , L M Patnaik

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

Lung cancer is a condition where there is abnormal growth of malignant cells that spread in an uncontrollable fashion in the lungs. Some common treatment strategies are surgery, chemotherapy, and radiation which aren't the best options due…

Computer Vision and Pattern Recognition · Computer Science 2026-03-18 Ann Rachel , Pranav M Pawar , Mithun Mukharjee , Raja M , Tojo Mathew

We introduce a statistical procedure that integrates survival data from multiple biomedical studies, to improve the accuracy of predictions of survival or other events, based on individual clinical and genomic profiles, compared to models…

Applications · Statistics 2020-07-20 Steffen Ventz , Rahul Mazumder , Lorenzo Trippa