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In this study, we present Flatsomatic - a Variational Auto Encoder (VAE) optimized to compress somatic mutations that allow for unbiased data compression whilst maintaining the signal. We compared two different neural network architectures…

Image and Video Processing · Electrical Eng. & Systems 2019-12-02 Geoffroy Dubourg-Felonneau , Yasmeen Kussad , Dominic Kirkham , John W Cassidy , Nirmesh Patel , Harry W Clifford

For personalized medicines, very crucial intrinsic information is present in high dimensional omics data which is difficult to capture due to the large number of molecular features and small number of available samples. Different types of…

Machine Learning · Computer Science 2022-02-04 Sayed Hashim , Muhammad Ali , Karthik Nandakumar , Mohammad Yaqub

Medical imaging is a critical initial tool used by clinicians to determine a patient's cancer diagnosis, allowing for faster intervention and more reliable patient prognosis. At subsequent stages of patient diagnosis, genetic information is…

Computer Vision and Pattern Recognition · Computer Science 2025-12-03 Rahul Mehta

In this paper, we introduce a Variational Autoencoder (VAE) based training approach that can compress and decompress cancer pathology slides at a compression ratio of 1:512, which is better than the previously reported state of the art…

The emerging field of precision oncology relies on the accurate pinpointing of alterations in the molecular profile of a tumor to provide personalized targeted treatments. Current methodologies in the field commonly include the application…

Recent studies of cancer somatic mutation profiles seek to identify mutations for targeted therapy in personalized medicine. Analysis of profiles, however, is not trivial, as each profile is heterogeneous and there are multiple confounding…

Machine Learning · Statistics 2020-05-25 Rahul Mehta , Muge Karaman

The genomic profile underlying an individual tumor can be highly informative in the creation of a personalized cancer treatment strategy for a given patient; a practice known as precision oncology. This involves next generation sequencing…

Statistical inference on the cancer-site specificities of collective ultra-rare whole genome somatic mutations is an open problem. Traditional statistical methods cannot handle whole-genome mutation data due to their…

Methodology · Statistics 2023-01-02 Saptarshi Chakraborty , Zoe Guan , Colin B. Begg , Ronglai Shen

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

Research into somatic mutations in cancer cell DNA and their role in tumour growth and progression between successive stages is crucial for improving our understanding of cancer evolution. Mathematical and computer modelling can provide…

Populations and Evolution · Quantitative Biology 2024-02-26 Andrzej Polanski , Mateusz Kania , Jarosław Gil , Wojciech Łabaj , Ewa Lach , Agnieszka Szczęsna

Identifying genes underlying cancer development is critical to cancer biology and has important implications across prevention, diagnosis and treatment. Cancer sequencing studies aim at discovering genes with high frequencies of somatic…

Applications · Statistics 2013-12-09 Jie Ding , Lorenzo Trippa , Xiaogang Zhong , Giovanni Parmigiani

This work contributes to breast cancer sub-type classification using histopathological images. We utilize masked autoencoders (MAEs) to learn a self-supervised embedding tailored for computer vision tasks in this domain. This embedding…

Computer Vision and Pattern Recognition · Computer Science 2025-06-10 Annalisa Chiocchetti , Marco Dossena , Christopher Irwin , Luigi Portinale

Variational autoencoders (VAEs) are widely used deep generative models capable of learning unsupervised latent representations of data. Such representations are often difficult to interpret or control. We consider the problem of…

Machine Learning · Computer Science 2018-12-18 Jack Klys , Jake Snell , Richard Zemel

Cancer is a complex disease with significant social and economic impact. Advancements in high-throughput molecular assays and the reduced cost for performing high-quality multi-omics measurements have fuelled insights through machine…

Machine Learning · Computer Science 2022-06-28 Pedro Henrique da Costa Avelar , Roman Laddach , Sophia Karagiannis , Min Wu , Sophia Tsoka

Lung cancer is responsible for 21% of cancer deaths in the UK and five-year survival rates are heavily influenced by the stage the cancer was identified at. Recent studies have demonstrated the capability of AI methods for accurate and…

Computer Vision and Pattern Recognition · Computer Science 2023-11-28 Benjamin Keel , Aaron Quyn , David Jayne , Samuel D. Relton

Clustering high-dimensional data, such as images or biological measurements, is a long-standingproblem and has been studied extensively. Recently, Deep Clustering has gained popularity due toits flexibility in fitting the specific…

Machine Learning · Computer Science 2020-12-21 Andreas Kopf , Vincent Fortuin , Vignesh Ram Somnath , Manfred Claassen

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

The integrative analysis of histopathological images and genomic data has received increasing attention for survival prediction of human cancers. However, the existing studies always hold the assumption that full modalities are available.…

Computer Vision and Pattern Recognition · Computer Science 2025-03-19 Junjie Zhou , Jiao Tang , Yingli Zuo , Peng Wan , Daoqiang Zhang , Wei Shao

Recent advances in deep learning have shown their ability to learn strong feature representations for images. The task of image clustering naturally requires good feature representations to capture the distribution of the data and…

Computer Vision and Pattern Recognition · Computer Science 2020-05-12 Vignesh Prasad , Dipanjan Das , Brojeshwar Bhowmick

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
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